ALS Crowd Episode 5: Dr. Nazem Atassi on Advanced Imaging for ALS Therapy Development

Nazem Atassi, MD
Associate Director NCRI at Massachusetts General Hospital
Assistant Professor of Neurology at Harvard Medical School

Interview date: Wednesday, August 27, 2014

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We talk with Dr Nazem Atassi, MD, of Massachusetts General Hospital about Advanced Imaging for ALS Therapy Development

Full Transcript:

Seth:Hello and welcome to Episode 5 of ALS Crowd Radio. I’m your host, Seth Christensen, here as always with my co-host, Amy. We are really excited about today’s show. We have Dr. Nazem Atassi from Massachusetts General Hospital with us to talk about advanced imaging as a means of ALS therapy development. Amy?

Amy: Dr. Nazem Atassi, Associate Director at Neurological Clinical Research Institute at Massachusetts General Hospital Assistant in Boston, Massachusetts, Assistant Professor of Neurology at Harvard Medical School, completed Neurology training at Boston University Medical Center and Fellowship in Neuromuscular Disorders and Clinical Trials at MGH. He received his Masters of Medical Science in 2010 from Harvard Medical School. Dr. Atassi is the Co-Chair of the Upper Motor Neuron Task Force at the Northeast ALS Consortium and he serves on the Advocacy subcommittee of the ALS Research Group. Dr. Atassi received several awards including the MIT 100K Life Science Award from Massachusetts Institute of Technology, the Anne B. Young Translational Neuroscience Fellowship, and NIH K23 Career Development Award. He is the Primary Investigator for several research projects focusing on ALS and PLS clinical trials and neuroimaging. Dr. Atassi attends two clinics at MGH — ALS Multidisciplinary Clinic and Neuromuscular Clinic.

Seth: Dr. Atassi, welcome to ALS Crowd Radio.

Dr. Atassi: Thank you. It’s a great pleasure to be on your show.

Seth: Well, we are really excited about today’s topic. I think imaging is a little understood area in the ALS community. Before we get into that specific topic, we always like to open our show with the question, what do you think the cause of ALS is?

Dr. Atassi: That’s a very good and a very complex question. I think we could say that ALS is inherited or runs in families in about 10% of the cases. In the minority of the cases, there looks like a genetic component or a strong genetic component. In these cases, in the 10% cases, we know the causative gene in more than half of those cases. So we can say that for the ones that we know the gene that actually we know the cause of the disease, that the cause of the disease is that gene and whatever the protein that that gene makes or doesn’t make, fails to make, is the cause of the disease.

On that aspect, there is a great, new development, new research, things that we learned from the new gene that were discovered in the past few weeks — sorry, from the past few years in ALS, specifically the C9ORF72 gene that was discovered in 2011. So we could comfortably say that we know the cause of the disease in these specific cases.

Now, for the majority of patients with ALS, it doesn’t run in the family, so 90% of the time, it doesn’t run in families. In these situations, we call it sporadic ALS. For sporadic ALS, we don’t know the kind of root cause of the disease, but we believe it’s a combination of maybe some genetic predisposition in addition to some environmental factors. What we know from pathological studies on people who passed away from the disease and also on animal models of the disease that there are certain themes that we see in terms of disease mechanisms. I’m just going to mention a couple of these themes and maybe we can talk in detail on some of them as well.

Seth: Great!

Dr. Atassi: One of these themes is called excitotoxicity. That means the hyperexcitation of nerves. This involves a chemical on the brain called glutamate. Glutamate is a chemical in everybody’s brain and its job is to stimulate nerves. When there are large amounts of glutamate, more than needed, then the nerves are overexcited. And when they’re overexcited, they can’t keep up and they start dying, so that’s one of the proposed mechanisms that contribute to the disease.

The other proposed mechanism is energy metabolism, so this functions in the energy balance in the cell. This goes to small organisms inside the cells called mitochondria. These are the cell energy factories that make energy basically inside the cell. We know for sure that these are clearly effective very early on in the disease. In addition, if you want to relate to the metabolism issue — we know that for example, if you give the animal model of disease, if you give them a high fat diet, a diet that is high in the content of fat, they will live longer compared to animals that were given regular diet, so something has to do with energy. Something has to do with diet, with fat that also related to the disease.

There are also other factors that contribute to the disease. We know that there are some accumulations of certain proteins that we see in the brain and these are toxic to the brain, in addition to neuroinflammation, which is also a main component that we see across the board in people and in the animal model of the disease.

Seth: Now, on the topic of inflammation, do we know if inflammation actually is the causative factor in degeneration or is it a harmless byproduct?

Dr. Atassi: We don’t know for sure if it’s causative or not. There are some genetic discoveries that hint to the fact that inflammation could be causative or actually an important contributor to the disease. At the same time, it’s definitely not like a stander-by that it’s doing nothing and I can tell you why. If you look at human pathology, if you look at basically studying the brains of people that passed away from the disease, you would see a few things. You would see that there are definitely increased inflammatory cells that are called microglia in the brain. When you see this increase in the inflammatory cells, you see them around in the diseased nerves. These are the nerves that are dying basically in the disease. They are degenerating nerves, so that’s one piece of information.

The other piece of information, if you look at the number of B-cells and you look at how fast the disease progressed in these people, what you would see is that the higher number of these inflammatory cells, the faster the disease was progressing in these people. So not only that we’re seeing increased inflammatory cells in people with ALS, not only are we seeing the increased inflammatory cells around the relevant degenerating nerves, the nerves that are dying because of the disease, the motor nerves that control the movement, but also the number of cells has to do with how fast the disease was progressing. It’s a very strong link between the inflammatory cell and the disease, and this is from human pathology, from basically data that comes from people.

Now, if you look at animal data, the advantage of animal data is that you could basically sacrifice the animals very early on in life. What you could see is that inflammation or these inflammatory cells is probably actually one of the earliest changes that you see in these animals and in the brains of these animals. So even long before these animals develop any muscle weakness or any symptoms at all, maybe just like a few weeks after birth, you would start seeing these inflammatory cells going around motor neurons. That’s telling you that basically, inflammatory cells have to do with the initiation of the process. It doesn’t tell you the main cause, but it’s like a very early contributor.

The other thing is that once the animals develop weakness, you see an increase in these inflammatory cells around the same nerves, the motor nerves. As the weakness progresses, the number of inflammatory cells increases. The bottom line, if you look at both data from people, humans, and data from animals, you would see that actually inflammation occurs very early in the disease and probably long before symptoms develop. Once the symptoms develop, then inflammation actually increases as the disease progresses and inflammation corresponds with the severity of the disease and the rate of progression. All of these are basically telling us that inflammation is not just a passive stander-by. It has to do with the disease initiation, disease progression process.

Seth: Do we know whether these inflammatory cells are uniformly located in the brain and the spine of ALS patients?

Dr. Atassi: What we know — actually, there was a very well-done study, I want to say, a recent one that looks actually at 60 different autopsied brains from people who passed away from ALS and they looked systemically at the motor cortex. This is the area that controls movement, and then the nerves that comes out of it, so they looked at the subcortical areas. They looked in the medulla, which is the area that controls the movement of the mouth and tongue, so this is the bulbar aspect of the disease. They also looked in the cervical spine. That’s the part of the spinal cord in the neck, and they looked at the lumbar spine, the part of the spine that is in the lower back that controls the legs.

What they saw is there’s actually increased inflammation across the board in these patients in all of these areas that I just mentioned, in the motor cortex, at the top of the brain, in the medulla that controls the mouth and tongue and swallowing, the area in the spinal cord that controls the arms, and the area in the spinal cord that controls the legs.

They also found that these inflammatory cells are actually both in the grey and white matter, so the inflammation is actually relatively widespread in the brain and the spinal cord and involves both the grey and white matter. It’s specific to the areas that control the movements, but it’s not localized in a very small area. It’s really widespread.

Seth: Do we know whether we can affect the inflammation in any way through behavior or medication or sleep?

Dr. Atassi: That’s a very good question. I think that we should be able to affect inflammation. Why am I saying that? There are large numbers of drugs that target inflammation both on the market and also in discovery, in drug discovery. We just need to figure out which one of these is basically effective in the brain that reach the brain and are effective specifically for people with ALS. The bottom line is that we have a large number of candidates that what we need is an efficient way to screen these candidates. Now, how do we screen candidates? We know that inflammation is important. We have a list of anti-inflammatory medications, so medications that change immunity or inflammation, so how do you screen these medications? How do you know which one works and which one doesn’t work? Well, you have a few ways to do it. One is to use a disease model. The other way is like an animal model or like a cell culture model. The other way is to try to screen these treatments in people and people who have the disease, so doing clinical studies in people who have the ALS by trying these medications. If you use the disease model like an animal model, usually a mouse model of ALS, it is efficient because these mice are not very expensive and you can buy a lot of them. You can test a lot of them. I can test different medications on a lot of them. However, we have to remember that these mice are all based on a gene called SOD1 gene that only represents 2% of ALS population. That’s one issue, is you’re trying to test something on 2% and then take it from there and try to generalize it to the 98% or 100%, so that’s a big issue. The other issue is that mice are actually very different than people. You test something on the mouse. Even if it works on the mouse, that doesn’t mean that it’s going to work for sure on people. There are a lot of differences in biology. There are a lot of differences in dosages and kinetics of drugs between people and mice. So you can see the limitations and challenges of using these models for drug screening.

Now, these models are important. We learn a lot about the disease from these models. These models are probably important to test the mechanism of action, but in terms of predicting response in people, probably these models are not as good. Now, the alternative is to screen these drugs in people and people with the disease. The problem is that this is very expensive and very time-consuming, so clinical trials are very, very, very expensive. Now, is there a way to make this process more efficient? Yes, and this really is my focus of research. This is my research focus, is trying to find ways to screen medications quickly and efficiently in people with ALS.

Seth: That is an amazing segue to your own research. We will really quickly give Amy a moment to invite callers.

Amy: For those of you listening in today who have a question for Dr. Atassi, please dial 516-590-0362 and press 1 to indicate that you have a question for us at the end of this show.

Seth: Thank you, Amy. Now, Dr. Atassi, could you tell us what the focus of your research is today?

Dr. Atassi: The focus of my research really is to use advanced imaging technology to accelerate the process of ALS drug development. So my ultimate goal is to give treatments to people as quickly as possible. I can give you a few examples.

For example, now — and you’re probably very familiar with this technology — now, we have an advanced imaging technology using PET scans, so Positron Emission Tomography technology. What we could do is basically inject a radiotracer that goes to the brain and would only light up if there’s inflammation in the brain. Actually, it can detect these inflammatory cells and light up and show us that basically there are inflammatory cells in the brain. It tells us how much and where in the brain we see these inflammatory cells. This will allow us to measure inflammation in the brain in people living with ALS. It might sound simple, but this is a huge advancement in our knowledge. The fact that we could measure and localize accuracy inflammation in the brain in people living with the disease is not something that we could have done sometime ago. It’s really very exciting being able to do that.

Potentially, what we could do is we could take a picture of the brain, measure inflammation before somebody takes an experimental medication, an anti-inflammatory medication. And then that person could be on a course of a treatment, anti-inflammatory treatment for a few weeks or a couple of months. After that, we can take another picture of the brain and see if that inflammation goes away, decreases, or unchanged.

If the inflammation goes away or decreases, that means a few things. That means that our anti-inflammatory drugs, that candidate got to the brain, got to where it’s supposed to go in the brain to the target, and modulated that target, reduced the inflammation, did the job that it’s supposed to do. This medication’s job is to reduce inflammation. We can tell that this medication actually did reduce the inflammation, so that’s a good drug to take to the next phase, which is basically testing this drug in a very large number of patients and actually over a very long period of time.

At that time, what we want to look at is clinical benefit. We want to be sure — of course, it’s great to reduce the inflammation on the picture, but what we really want is slowing down the disease, stopping the disease, reversing the disease, so we need clinical measures, not imaging measures.

What the imaging measures help us with is the stat screening process, so if you have a large number of candidates, you can screen them one by one quickly and efficiently and accurately using these imaging technologies. Again, inflammation is one of them, but we have imaging technologies to look at the excitotoxicity that we talked about. We have other ones that can look at energy, so all of the mechanisms that we talked about. Actually, we have some kind of an imaging technology that can tackle that mechanism of action, so all of this is basically mechanism-based imaging for people with ALS.

Seth: Amazing! So this is the focus of your research today. What stage of study are you in? Are you actually imaging patients today?

Dr. Atassi: Yes. Actually, we received an NIH grant recently to image a number of people with ALS using this radiotracer to look for inflammation in the brain. The first step is to see basically the difference between people who have ALS and people who don’t have ALS, healthy volunteers, to see basically the difference in the amount of inflammation.

We clearly see increased inflammation in the brain, in the area that controls the movement in the brain, the area that we’ve known from pathology that has a lot of inflammatory cells. What we’re seeing so far actually matches exactly what we’re seeing in the animal model, what we saw in the animal model and in human pathology, so this is very, very encouraging.

The next step is we want to know if this signal changes over time as the disease progresses or not. So in order for us to asses if a drug is working or not in imaging before and after, we need to know if we don’t have any intervention, how the signal changes over time. This is where we are in research right now. We’re trying to image people at different time points over time to see how this signal changes over time.

Once we figure this out and we see that this is a reliable signal that we could use for testing the efficacy of drugs, the next step would be to start screening medications and see which one of these medications reduces that signal. We’re definitely in the middle of all of this. Again, we scan a large number of people. We’re now in the process of scanning some of them longitudinally, so over time.

Seth: For those of our listeners who are on the edge of their chairs right now, is there an opportunity for these listeners to be involved in your project?

Dr. Atassi: Of course. Our project is open. Obviously, there is an inclusion criteria and exclusion criteria and this is mainly for safety, for people’s safety. For example, if somebody has any contraindication for an MRI, again, this is a PET-MRI study. We do actually the imaging acquisition for both the PET component that shows the inflammation and the MRI component that gives us the kind of very high resolution anatomy. Any contraindication for an MRI, anything that’s telling us that the person is not safe to be in an MRI machine basically would be a contraindication, but the research is open.

It’s only available actually for this specific study in Boston at Mass. General Hospital, but I want to say that there’s a lot of research going on all across the US and Europe and other places in the world. Listeners can be actually involved in research in many different ways. One way to be involved in research is advocacy, advocating for the disease, educating people about the disease. We have the ALS Advocacy Day in DC that happens usually once a year where people go and talk to the senators to raise awareness and funding for ALS research.

There is the work that you’re doing with increasing awareness. We have our Northeast ALS Consortium. We have a Clinical Research Learning Institute where people come in and it’s a course. It’s an institute. They spend two days with us. People with ALS, they come with their family members and they learn all about research, all about advocacy, and then they become ambassadors for ALS research advocacy, so advocacy is definitely one way. Listeners or people can participate in the Ice Bucket Challenge. It’s a great example as well, so this is definitely one way to be involved in research.

The other way is to participate in research studies, to be basically a subject. We call them a subject basically in the study, so this could be an experimental drug trial. It could be a biomarker study where we collect blood or spinal fluid samples. It could be an imaging study similar to what we talked about. We learn a lot. We learn a ton actually from all of the studies whether we’ve given medication or not. This is something that definitely we cannot do without patient participation.

You can get very smart people in one room. They can sit and think and talk about so many things. They come up with all great ideas, but if you don’t have patients participating in research, we’re not going to get anywhere. This is definitely a journey that we have to take together. Participating in research is definitely needed and that’s another way to be involved in research.

Another way, actually the third way is to fund the study or the research program. This could be a small amount of funding or it could be a large amount of funding depending on the capacity of the person. In addition to NIH, National Institute of Health, and the foundations that fund some ALS research, we actually heavily depend on philanthropy and private donations to do our research. This type of funding actually is very important. It bridges a knowledge gap and it does actually the ALS drug development. What it does is it serves de-risking drug development for ALS.

Actually, it becomes attractive for the industry. Then pharmaceutical companies and biotech companies can take it forward. Again, funding and philanthropy is another great way to be involved in research. I want to say that each one of us can find a way to contribute to research either by advocating for research, participating in research, or funding a research study.

Seth: Dr. Atassi, you are the associate director of Mass. General’s NCRI. Could you tell us a little about the mission of the NCRI?

Dr. Atassi: Yes. The mission of NCRI is to develop treatments as quickly as possible to people with ALS and other serious neurodegenerative disorders. How do we do that? We do that through conducting efficient clinical trials. The NCRI has different functions. One of them is we have data management, project management, and electronic data capture system group. These groups, actually what they do, they run multicenter clinical trials for ALS and other neurodegenerative diseases.

Also, we have a site, a wing, or arm to this NCRI where actually we see patients. We do all these clinical trials. We do imaging studies. We do biomarker studies. For example, we have a very active clinical research program at MGH and some examples are from ALS basically, the trials. We have ongoing trials for a drug called mexiletine. We have the BrainStorm or NurOwn Clinical Trails. We have a GSK Clinical Trial going on. We have a trial for a drug called arimoclomol. We have the Neural Stem Clinical Trial. We have an exercise study.

All of these are ongoing and all of these are very active clinical trials for people with ALS, and we have a lot of other basic new trials in the pipeline. We have Actemra, retigabine, inosine, and others. All of these are in the pipeline for clinical trials in ALS. So the NCRI is really a very busy group laser focused on drug development for ALS and other neurodegenerative diseases both in terms of doing research in patients and in terms of running multicenter clinical trials.

Seth: For those of our listeners who are unfamiliar with the NCRI, this is MGH’s Neurological Clinical Research Institute. We will pause for a moment for Amy to invite listeners.

Amy: Hi, listeners! The number to call in is 516-590-0362 and if you have a question, press 1 so we know and we can answer your call.

Seth: Great! Thank you, Amy. Dr. Atassi, for our listeners all over the United States, do these studies you just mentioned only recruit in Boston?

Dr. Atassi: No. Actually, most of these studies are multicenter clinical trials, so these studies usually are run in different centers and usually distributed across different clinics in the United States. I would say there are a lot of different resources where you can find out about these studies. I’m just going to mention a couple of them.

One of them is and this is the FDA website. You could actually search by disease by which trial is active, which trial is non-active, which one is recruiting, which one has finished recruitment, so that’s one way to find out if there’s a clinical trial for ALS that is close to you.

The other great resource is the Northeast ALS Consortium website. I believe it’s In this website, actually you could just enter your zip code on the website and you could say that “I’m looking for a clinical trial for ALS and I’m willing to travel.” They’ll give you options, 5 miles, 10 miles, 50 miles, 100 miles to go to a trial center and it will basically give you a map, a Google map where the trials that are recruiting that are next to you within the distance limit that you set, so it’s a nice, user-friendly tool to find out about research, what’s going on in the ALS research, and also what sites are enrolling for which trials, and if any of them are close to you.

Seth: Thank you. Very specifically, if our listeners wish to be involved in your imaging study, how do they apply?

Dr. Atassi: The best way to apply is to send an email. I’m not sure if my email is on your website or not.

Seth: We will make sure it is available.

Dr. Atassi: My email is, so you can send me an email if you’re interested. Alternatively, you could send an email to the study research coordinator. Her name is Julia Yasek and her email is as well, so you could either reach me or her and we’ll be happy to facilitate scheduling to visit.

Seth: Now, is that for both ALS diagnoses and otherwise healthy patients?

Dr. Atassi: Yes. Actually, for this specific imaging study, we are open to — we’re accepting people who have the disease and also we’re looking for healthy volunteers to enroll in the study as well, so yeah, for both.

Seth: Wonderful! Thank you. We will now go to our phone lines and receive some questions from listeners. Listener one, you are on the air with Dr. Nazem Atassi.

Caller: Hi, Dr. Atassi!

Dr. Atassi: Hi!

Caller: My question is kind of multifolding. I am wondering with all this great research going on, how often do researchers across the country actually share their research or things that could help one another and build off of that, or is that more of, “We’re going to focus on this stuff and we’re going to see how that goes,” even though it might be helpful for someone somewhere else in the country, a researcher, I don’t know. So how much is information shared?

Dr. Atassi: That’s a great question. It’s something that we always think about and we always try to address, and I’m going to give you a few examples of how we share information. One way to share information is to publish the results of studies, so we do submit to peer review journals and we submit articles and papers. This is one way to share our research with the community in general, with the research community in general.

The other way to share research is we go to meetings and we also submit abstracts. We present posters and we give presentations in these meetings and we talk about our research. We share it with the other members of the scientific community and we get their feedback and we get their thoughts on our research.

We also share our research with the patients through talk shows like this, through all kinds of media. We share information, for example, to Northeast ALS Consortium. It has a hotline that you could call and you could talk to somebody about research. We also give a lot of presentations, usually sponsored by certain foundations and sometimes family to just talk about these most recent advances in research. These are all types of oral and written communications about research that we do.

There is another way that actually we collaborate and share information, which is basically we share data. That’s another level of sharing information, is sharing the actual data, not the result of the data, but the actual data, an actual sample.

I can give you two examples of this. In terms of data, we work with a nonprofit foundation called Prize4Life, and we came up with — we pulled together the largest database for clinical trials for people with ALS, which is called the PRO-ACT Clinical Trial Database. It has over 8000 patients that were called over time with a lot of information, including clinical information, labs, medical histories, medications, you name it, so it’s a very rich, very important data set that is actually publicly accessible, publicly available for researchers.

The Northeast ALS Consortium also has a huge biobank, a huge bank of samples from people with ALS, spinal fluid samples, blood samples, serum, urine, you name it. All of these samples are also available and all of these samples are shared and being shared and will be shared. They are there to be shared, so we definitely share data and we share samples as well.

Caller: That’s great. I’m wondering. In your opinion, what is the biggest hindrance to finding a cure for ALS?

Dr. Atassi: That’s a great question. There are actually multiple challenges that we need to overcome. Some of them have to do with how rare the disease is and that’s a challenge that is actually a little bit difficult to tackle. When you recruit for an ALS study, it’s usually not easy because the disease is rare. If you’re recruiting for a diabetes study, you can find a lot of people with diabetes. Believe it or not, it’s not easy to find people with ALS. I think advocacy, encouraging people to participate in research is one way to overcome this challenge.

The other big challenge is translating discoveries in the lab to treatments to people quickly. This is a multifold challenge. One has to do with the pharmaceutical company’s interest in the disease. It’s a challenging disease. It’s an orphan disease, so it’s not very attractive from a financial perspective for companies to invest a lot of money in this disease, although there are some companies that are investing money in this disease. When I say invest money, that means doing research, invest a lot of money to do research in a disease.

Again, this is where I mentioned a little bit earlier how philanthropy money and foundation money and NIH money can help basically bridge that gap and de-risk the drug development for the drug company, so then it becomes more attractive for them to actually consider ALS as a disease that they want to find treatments for. There are multiple challenges. It can be overcome by, as I said, advocacy and more sources of funding.

Caller: All right. Thank you.

Seth: Thank you, Caller 1 and thank you, Dr. Atassi. We will now go to our next caller, the number ending in 4475. You are on the air.

Caller: I’m on the air, yes, thank you. Dr. Atassi, I have a question about the SOD1 mouse model that’s been typically used. As you said, the familial ALS only affects a small percentage of the population, so do you feel that using this kind of a mouse model might mask the results on sporadic ALS situation? And then as a second question, is there any effort currently going on to develop a non-SOD1 mouse model?

Dr. Atassi: Yes. You made actually an excellent point with the first question. The point is if we’re going to use this mouse model, the SOD1 mouse model that represents only 2% of ALS, if we’re going to use that model to screen therapies, you are worried, you are concerned about missing a treatment that actually is effective in people, but not effective in mice. So having a negative study in mice would trigger basically not testing that medication in people, though it might be effective in people, and that’s an excellent point. That has to do with, as I said, the limitations of this mouse model.

Now, just to expand on this mouse model, this is a great mouse model to really help us understand the disease. A lot of the things that I mentioned about inflammation, we relearn these things from the mouse model. We’ve seen the inflammation early on in the disease. We’ve seen how inflammation increases as the disease progresses. We’ve seen all of it, so we learned a lot about not only inflammation, but other mechanisms from this mouse model, so it’s a great learning tool.

Now, is this the perfect model that will translate efficacy in this model to efficacy in humans? The answer is “no”. There are a lot of medications that worked in this mouse model, but when we took them to people, it didn’t work. That means if you see something that works in the mouse — when I say “works”, I mean prolonging survival in the mouse or slowing down the disease progression or the weakness progression. If we something like this in the mouse, that doesn’t necessarily mean that it’s going to do the same in people. In that respect, the mouse model is not the perfect model to screen drugs because when it’s worked in mice, it didn’t work in people.

Now, going back to your second question, are there any mouse models that are being developed for ALS? The answer is yes, there are mouse models that — attempts basically for mouse models that are being developed for ALS that are different than the SOD1 mouse model. The issue is that these mice, first, they’re still under development, so they’re not very well standardized, qualified, tested, so they’re still in the development stage. It’s not easy to make a mouse model.

The other issue is that it probably will suffer from similar issues as the SOD1 mouse model because they’re all based on genetic mutations. Now, if you have a mouse model that is based on the C9ORF72, this is the most common mutation that we know that causes ALS. It’s responsible for about 30% of people who have familial ALS and about maybe 5% of people who actually have sporadic ALS, so this is the kind of — if you’re going to build a mouse model based on a gene, that’s the gene to build it on because it’s the most common, the familial, and actually you can see it sometimes in people who have apparently sporadic disease.

That mouse model might be a little bit more helpful if it succeeds than the SOD1 mouse model. Again, we’re talking about their effect in predicting response in humans. This is the issue, but these mouse models are very important for us to understand the disease and the mechanism of the disease.

Caller: Thank you.

Dr. Atassi: You’re welcome.

Seth: Thank you, caller. We have time for one more brief question. Caller ending in 6431, you are on the air.

Caller: Yes, Dr. Atassi, thank you so much for what you’re doing is so exciting. My question was as you pre-screen or you did the baseline for inflammation and then there’s a treatment ongoing and then a measurement, do you have to judiciously make sure a certain time lapses? Are there any negative side effects to the imaging?

Dr. Atassi: Excellent question. I hear two different set of questions, one is basically what happens and how long we should wait between the two imaging, between the two pictures that we’re taking, and then the other question, are there any side effects of imaging, so let me answer the first question.

I just want to be clear that currently, we’re not testing treatments and looking at the effects of these treatments on imaging. This is the next step. Now, we’re in the process of characterizing the measurements itself, the imaging measurements itself and people with the disease. The goal is to test treatments quickly in people using these imaging technologies, so this is not ongoing. The testing of medications using imaging, it’s not happening as we speak today, but it’s going to happen very soon.

The question about time lapse, yes of course, you need some time lapse to be sure that the medication reaches a steady state, that the medication reaches the brain, reaches the area in the brain, and start to have an effect, so it’s not going to be take a pill — you’ll get an image one day and then you take a pill, and you take the image the second day and you’re going to see a change. Probably it’s going to be a period of treatment of two months probably or three months or something like that. It would just give the medication time to work and to reduce the signal.

Now, your second question about any side effects of MRIs or PET scans, again, we’re doing this study with a combination of scanner. It’s a scanner that has actually both the MRI and the PET imaging coming together. MRIs are actually relatively safe. MRIs are used on a routine basis in many different places and actually there are no known risks of being in a magnetic field. MRIs are not x-rays, so there’s no radiation in MRI, just a magnetic field. There are no known risks for the MRI except for people who have claustrophobia or have difficulties getting to the MRI.

The PET component, the Positron Emission Tomography component, that involves some kind of radiation because the tracer that we inject, it’s radioactive. Now, the good news is that it’s very fast decaying. That means the radioactivity goes away very quickly. It has a half life of 20 minutes, so within a few hours, the whole tracer is actually gone from your system completely.

The amount of radiation that a patient gets from doing a PET study, these types of PET studies, is the same amount of radiation that a person would get from walking around a city like Boston for a year from the sky. We all get radiation from the sky all the time. It’s really a minimal amount of radiation and risk of radiation that we get basically during the scanning time, which is about two hours.

Caller: That is so helpful. Thank you so much. Again, we just are grateful for your involvement, just for what you’re doing for ALS families. Thank you.

Dr. Atassi: Thank you. Thanks for calling.

Seth: Now, we know that Dr. Atassi has a number of people waiting to douse him in ice water, so we will let him go, but Dr. Atassi, any final thoughts before we wrap up?

Dr. Atassi: No. I just want to thank you so much for inviting me to your radio show. It’s really very exciting. I always love to connect with people, with patients, and I always love to share my research and everyone’s research with the patient. Again, I think the message or the important thing is that we’re in this together basically for ALS research.

ALS patients and their families, they can’t do anything on their own, and researchers and scientists, they can’t do anything on their own. The only way to make this work, the only way to find a cure for this disease is to work together, so I really value what you’re doing. It’s basically bringing researchers and scientists to connect and talk to patients, so I think that’s amazing, so thank you.

Seth: Thank you for our listeners. A full transcript of this interview will be available in a week. Thank you to Dr. Nazem Atassi of MGH. Have a great Ice Bucket experience.

Dr. Atassi: Thank you.

Utah Legislature & Public doing LARGEST ICE BUCKET CHALLENGE yet!

What an amazing experience the Ice Bucket Challenge has been! Those of us living with ALS have been overwhelmed by the interest, compassion, and generosity that has been “poured out” over social media over the last month.
I want to personally invite you and your family, whether you have done the challenge or not, to join together in the largest gathering of ice-bucketeers yet: on Tuesday, August 26, beginning at 4:30 PM on the front lawn of the Utah State Capitol, PLEASE join me, the Utah Legislature, multiple ALS charities, corporate donors, and local TV stations as we join together to bring an end to ALS!
What you need:
  • a bucket
  • the name of someone to challenge
  • a phone or other video recording device
  • ANY donation you wish to bring  (cash or check are appreciated)
Ice will be provided for the first 1000 people by Associated Food Stores
Water will be administered by the Salt Lake Fire Department
The first 100 donors of $100 or more will receive a bucket compliments of The Home Depot
What we need:
  • YOU!… In attendance!
  • Promotion: please invite everyone you know including teams, businesses, coworkers, congregations/wards
  • Donors: please consider giving or giving again… especially you business leaders. This is an incredible opportunity to offer “matching” challenges
Please spread the word! Look for any updates on
All my gratitude,
Seth Christensen
ALS diagnosee since 2010
Twitter: @ALSCROWD

ALS Crowd Episode 4: Dr. Summer Gibson on next-generation ALS research

Dr Summer Gibson, M.D.
Assistant Professor of Neurology
Division of Neuromuscular Medicine
University of Utah School of Medicine

Interview date: Friday, August 21, 2014

Discover Health Internet Radio with ALS Crowd Radio on BlogTalkRadio


We talk with Dr Summer Gibson, MD of the University of Utah about the next-generation of ALS researcher and research methods.

Full Transcript:

Seth: Welcome to Episode 4 of ALS Crowd Radio. I’m your host, Seth Christensen, here with my co-cost, Amy Christensen. We are thrilled today to have Dr. Summer Gibson of the University of Utah with us to talk about the next generation of ALS researcher and research. Amy.

Amy: All right. Dr. Gibson attended Rice University where she earned her BA in Biology. She received her MD from the University of Texas Health Science Center in San Antonio. She completed her residency training in neurology at the University of Utah, in her last year as co-chief. During her residency she developed a strong research and clinical interest in ALS. After completion of her residency, she was elected as the first Petajan neurophysiology fellowship recipient. She completed epidemiologic studies on ALS using the Utah Population Data Base and her manuscript was successfully accepted for the publication in Neurology. With the mentorship of Dr. Stefan Pulst, she started an ALS clinic tissue bank repository to identify and further expand the understanding of ALS genes and to explain findings from her Utah Population Data Base studies.

Seth: Welcome, Dr. Gibson.

Dr. Gibson: It’s a real pleasure to be here. Thank you.

Seth: Well, we are honored to have you here and I’m excited about today’s topic. Before we get into the topic specifically, we always like to start off with the question: What is the cause of ALS?

Dr. Gibson: Oh, it’s a great question and it’s unfortunately a very complex one and one that we really don’t have a great answer to. So the things that we know about what causes ALS, we know that there are some genes involved in rare cases. In most cases, there’s no identified gene. But we have learned from genes being involved that there is at least some overall mechanisms and themes. There’s likely a disruption in the protein stability that we’ve learned from our SOD1 mutation.

We’ve learned that this cytoskeleton function including things like auxin transport and vesicle trafficking are disrupted. We’ve also learned that there may be an increased susceptibility to environmental toxins. There are also a few others that probably suggest that there are other areas that promote aggregation and then RNA and chromatin biology also have been shown to be abnormal. So several different things that we’ve seen from genes although again genes we think are rarely involved.

What we’ve also identified and thought of for causes, there’s been a lot of theories about environmental role and I think very strongly that environment has a major role in ALS although I don’t think we’ve really identified exactly what that is. Some of the leading theories though are things relating to head trauma, and then there’s also a neurotoxin BMAA that has also been implicated.

For drugs, as you well know, we don’t really have great drugs for ALS. The only drug that has ever been shown to help slow the disease is a drug called Riluzole or Rilutek. And from it what we’ve learned is that we think that it blocks glutamate transmission into the brain, and that probably tells us something else about ALS although when we look at other drugs that do very similar things, those have not been very helpful for ALS. So it’s hard to know what to do with that piece.

And then I think that there is lots of other potential causes, things like oxidative stress, inflammation, proteins or toxic spread of proteins as well as hyperexcitability or other mechanisms that we believe are probably involved.

Seth: Wow. It sounds like ALS is truly a cross-system syndrome, and that’s quite a list that you just shared. If, by the end of this show, you could narrow that list, that would be helpful. (Laughing)

Dr. Gibson: Absolutely. (Laughing)

Seth: Yeah. All right. Well, as I mentioned, the topic for today is the next generation of ALS researcher and research. We are on honored to have you here today as an ALS researcher and clinician comparatively young in career. Could you help us understand the process by which a medical student becomes an ALS specialist?

Dr. Gibson: Yeah. So I think for most ALS specialists, they are neurologist. So from medical… [0:07:09] [Audio glitch]

Seth: Hi, Dr. Gibson. Welcome.

Dr. Gibson: Thank you. I’m so sorry about that. I don’t know what happened.

Seth: We are not sure either, but we’re happy to take this up where we were interrupted.

Amy: And our listeners held on. Thanks, listeners. We’re sorry about that.

Seth: All right. I believe you were talking about starting with neurological training.

Dr. Gibson: Yeah. So I think most people that work in ALS as the MD typically go through neurology. And so there’s four years of medical school that they would go through and then four years of residency for neurology, and then typically a fellowship is done typically in neurophysiology although many also do a few other fellowships that may come for that same direction. And then some will also do PhD work which will help with their ability to be better scientists too. So there can be lots and lots of schooling, lots of steps and years before they are able to actively get where they want to be.

And how somebody actually does, I think maybe the other question would be why they actually do it and that can really vary. I think a lot of people in ALS have a personal interest and exposure at some point to a person with ALS and that causes them to choose that career direction.

Seth: Now, are all medical students exposed to neurology and are all neurologists exposed to ALS?

Dr. Gibson: That’s a great question. How much of neurology is taught in medical school really varies on the medical school. So every medical school will teach some neurology but then the rotations beyond that really can vary in the amount of exposure to particularly ALS during medical school can really vary. So for some medical students, maybe actually none and for some it may be quite a bit. At our medical school, they will bring in a patient with a disease and so I think that really for many people helps to drive the message home and to really keep it in their memory. But not all medical students get exposure to ALS clinically. I think probably about a quarter of medical students get a rotation where they will actually see ALS patient in clinic.

Seth: Wow. Now, is that unique to the University of Utah or where you attended medical school?

Dr. Gibson: So I think that the end exposure to a patient with ALS during rotations, I think that that’s probably similar across country. I think our neurology lectures at the University of Utah really our neurologist, Dr. Renner, who has been teaching that course, really does a very excellent job of spending lots of time on not only many neurological diseases but really does a great job with ALS.

Seth: Wonderful. Now, maybe loaded question but what on earth would persuade a medical student to jump on the ALS bandwagon? I mean, right now the state of ALS is almost always terminal. What would interest a medical student then choosing a career where most of their patients pass away in a relatively short amount of time?

Dr. Gibson: I think it probably pulls up medical students that are eternal optimists, that believe that they can add and help to care for people with ALS and believe that the answer is coming and that hopefully that they can contribute to creating that answer too. So I think it has to be an optimist. And I think that a lot of people, if they get exposure to ALS, really become very interested in it because it is so severe and it does affect people so severely. And so I think that’s what draws most of us to become doctors and general is that we want to help and I think that there’s lots of need and places to help people with ALS.

Seth: Wonderful. This show falls almost exactly on the four year anniversary of my own diagnosis, and I’ve never been more optimistic and grateful to hear that my doctors and the community feel the same way. Thank you for that answer.

Dr. Gibson: Yes, of course.

Seth: Now, if I can be very personal, what was your personal interest in becoming an ALS specialist?

Dr. Gibson: My personal interest started after my exposure early in medical school and was really kept alive because of my exposure to my mentor, Dr. Mark Bromberg, who is one of the other ALS specialists at the University of Utah. He started the University of Utah ALS Clinic about 25 years ago and has built it up to what it is today and really inspired me during my training to want to be a doctor that helps people like he did; that cared for people like he did and remained optimistic like he does.

And so I think that for me if I didn’t have an exposure to him, I don’t know that I would have gone into ALS. But I’m eternally grateful that I did and have.

Seth: Wonderful. We love to hear about the baton being passed between researchers and clinicians who are optimists. That is a great answer. Now, we will pause for a moment to have Amy invite listeners.

Amy: Yeah. At the end of this show, we’d love to have any questions call in for Dr. Gibson. And the number for that is 516-590-0362. That’s 516-590-0362.

Seth: And once you have dialed in, please press 1 and we will know that you are on the line at that point.

Now, switching gears, how, Dr. Gibson, can we continue to attract the best and brightest and most optimistic young doctors to the field of ALS?

Dr. Gibson: I think what you’re doing probably helps to do that. I think sharing your story and inviting others to learn about the disease and learn about what you’re going through, I think that those will really act to inspire other people to want to go into ALS. Beyond that, I think that continuing to support clinics as well as research are other really important pieces to maintaining clinicians and great research.

Seth: Wonderful. Now, let’s pause for a moment to recognize your fellowship. Can you tell us about the Petajan fellowship?

Dr. Gibson: So the Petajan fellowship is recently started. It’s been around since I did my fellowship a couple of years ago. It was started based off of Dr. Petajan who is the Chair of Neurology at the University of Utah about a decade ago. He was really an excellent clinician and excellent investigator and just an all-around wonderful human being that really we wanted to continue a lot of his work that he had started. Fellowships are something that do require funding in order to maintain and the Petajan Fellowship is really something quite special and allows us to continue the great work already started at the University of Utah and to support fellows in their career goals and hopefully their career goals include research, which is not always the most lucrative but is certainly I think internally rewarding.

Seth: Now, for young newly minted ALS specialists like yourself, are there communities where you communicate and collaborate?

Dr. Gibson: Yes. There are several meetings that are national as well as international for ALS. Some of those meetings are the NEALS meeting which is the Northeastern ALS meeting. And although it sounds like it’s only a section of the country, it’s actually a national meeting and then the Motor Neuron Disease meeting which is an international meeting. Within those, there’s a lot of networking that goes on to meet people and to start up collaborative work.

And then many of the societies like MDA as well as the ALS Association have research grants that are specifically for young investigators, although I think it’s always hard because they aren’t always — you don’t remain young forever even if you are still young. So the MDA grant, their Young Investigator Grant, you have to be within five years of your MD. So even though I’m young, I am not five years away from my MD and so I don’t qualify for their young investigator. But the ALS Association young investigator I do qualify for. So it can be a little bit tricky there.

Seth: Yeah. Welcome to old age, Dr. Gibson. (Laughing)

Dr. Gibson: Thank you. (Laughing)

Seth: One last question before we turn to your personal research. I know you are as well as a researcher, a passionate clinician. Could you talk about the difference the two and the importance of both?

Dr. Gibson: I think an investigator and a clinician can really come hand in hand, but I think as far as being a clinician for ALS, I think the things that you have to be very good at are one to think about what else could be going on and to continue to think about what else could be going on for an ALS patient each time you see them. So not to ever be stuck in the mindset that this person has ALS and that there could be something else causing their disease.

So I think that’s what I try to do every time I see one of my patients is to think about is there anything else that could be causing what’s going on and have we missed anything? And at the time said I would be elated to be wrong. And so that’s one of the things I think the clinician should do and then of course try to think about what symptoms are going on although for ALS we don’t have good medications to stop the disease. We do have many medications that can be very helpful in helping with some of the symptoms that happen so things like extra saliva, we can be very good at helping to control that and thinking about what’s going on nutritionally and breathing-wise and how we can help to support people. So I think those are the things that really need to happen as a clinician.

And then as a researcher, I think the most important things for patients is that our research goes somewhere, that it has a translation that comes back to our patients. And that can be difficult to be able to do because many times we can ask questions but the answers and the direction that our research is heading in is not something that then translates back to the patient. And so it’s a much harder question to try to think of things that translate back.

Seth: As an ALS patient, I appreciate deeply your answer–continuing to look for other possible causes is critical. Thank you for that. Now, coming into your recent research, what is the focus of your research today?

Dr. Gibson: Currently, the biggest focus that I spend most of my time on is ALS genetics. I know that that may seem like an area that wouldn’t relate to most people with ALS because again most people with ALS don’t have genes involved. I think the reason that it is important is that genes that are identified could hopefully lead to an overall mechanism that helps us understand and hopefully identify a medication that may be effective or as I think has been alluded to that ALS may not just be one disease. It may be a syndrome. And so it may require that we identify many of the different potential causes and target them individually, and I think genetics will really allow us to do that.

Our understanding and ability to find genes has remarkably advanced in the past 10, 20 years. And I think that that’s an area that our ability to not only find genes but to then come up with treatments is really probably about to explode and be a very exciting area. So our gene like C9orf72, which is the most common ALS gene, is caused by an abnormal expansion in part of the genes. I hope that that will really someday very soon translate into an ability to be able to help the people that have that specific mutation and then hopefully help the entire group of ALS patients.

But I really do strongly believe that the genetic research is very important and that it will hopefully really truly equate into some answers and then treatments.

Seth: Now, is your genetic research mostly looking for new genes or researching known impact gene?

Dr. Gibson: It’s a combination of both. You can’t look for new genes without looking for the genes that are already known. And so in doing that, we’ve learned a lot about some of the known genes. We’ve potentially identified the same genes but areas of the gene that have never been reported to be mutated before. And so I think that that’s important for our overall understanding about ALS and those genes.

And then beyond the goal would be to also identify new novel variance of genes that are causative or increased susceptibility for ALS. And then beyond that my next goal would really be to identify genes that may be involved in people that have slower progression of the disease and to understand more about why some people progress so slowly. I think that’s a real big key and I am hopeful that a lot of our genetics will allow us to explain that. And hopefully, by understanding that, it will allow us to come up with potential pharmaceutical intervention or an ability to identify the genes and to potentially turn them on from another mechanism.

Seth: We saw through your local NBC affiliate KSL that you had done some work with genetic research using the Utah Population Data Base. Can you speak about that project?

Dr. Gibson: Absolutely. So we started project using the Utah Population Data Base which is a database that connects the original Utah pioneers to some of the current descendants and all of our current Utah residents. So it connects them by birth certificates. Death certificates are linked. Hospital records are now linked and driver’s licenses are linked. So really if a person has spent an amount of time in Utah, then they are likely in the Utah Population Data Base. And that’s really unique because it allows us to think about people and the relationship to other people more distantly than a person is able to recall themselves.

So we are able to look up their fifth cousin and that’s really important because genetically it would allow us to identify people that may not know that they are related to each other and may not know that there are genes involved. So it hopefully will give us the ability to find genes that are harder to find because they likely have what we call decreased penetrance or that they may not cause ALS in each case. And those genes are going to be a lot trickier to find. So I think that’s why we have a very good chance here and maybe a better chance in other places because of that resource.

And then the other work that we have done with the Utah Population Data Base is looking and thinking about what other diseases might be connected, thinking about whether or not there is an increased risk of cancer in either an ALS patient or in their family members and other diseases too. We’re able to do the same thing and think about those relationships. And I think that that may be very helpful too. It sounds very basic but I think if we identify that people always have other diseases that are more common in their family members, that may be very helpful or even if there’s lower risk for certain diseases, then that may also be very helpful in thinking overall about what’s going on.

Seth: Amazing. So we are able to access these records because they are public or does the university have unique access?

Dr. Gibson: The records were handed over from the Mormon Church in the 1970s and then they began to connect those records to current records as well as they went back and connected things like death certificates. So death certificates are connected back to 1903 and there is a public version available that can be done. But the version that I have been able to use, you do have to get specific privileges and you have to ask them and tell them exactly what things you’re going to be looking for. That’s the only way to have full access to it. The one that’s available online is relatively limited and with it — it helps but it doesn’t really allow you to see some of the rare things. It’s done that way to help protect people’s privacy.

Seth: Wonderful. So is this database maintained by the state government?

Dr. Gibson: It’s maintained by the University of Utah.

Seth: Great. We’d love to see more of this. As you know, most ALS patients are less worried about privacy and more worried about breathing. So we would like to cheer on these efforts and ALS Crowd would love to be involved in the cheerleading effort.

Dr. Gibson: Absolutely, yeah. If anyone out there has ideas or specific concerns about diseases, then we could certainly come up with some projects even together.

Seth: Wonderful. We will invite our listeners to submit questions either directly to you or through us here at

Dr. Gibson: Great.

Seth: Now, Dr. Gibson, are you involved in any of the clinical or observational trials going on right now?

Dr. Gibson: We are currently active in two clinical trials. One is the SOD1 natural history study and that one is helping us to understand more about people that have SOD1 mutation, and hopefully that will allow us to better design SOD1 clinical trials that will likely be going forward in the next few years. And there is also one act of clinical trial for SOD1. And then the other clinical trial that we are involved in is one that is a little different because it’s really looking for only symptomatic treatment and benefit for people that have excess saliva. And so it’s not for everyone and that’s a study using Botox to help decrease excess saliva.

So not necessarily the clinical trials that we plan to be in the future, we have at the University of Utah participated in many of the big clinical trials and the ones really looking to see what medications may be beneficial in stopping or slowing the disease. We look forward in the future to having some of those to offer to our patients as well.

Seth: Great. And we will look forward to those as well. In the meantime, do you need participants or other resources for current trials?

Dr. Gibson: For the SOD1 trial, that is available for any patients that have an SOD1 known genetic mutation and certainly welcome any although I think that we likely know about the ones that are local. But if anyone hasn’t participated in that and wants to, we would love their participation. The Botox study, it’s something that we think about for our ALS patients and it can be a bit tricky because you can be on some medications and you also have to have normal swallowing. So I think for many of our ALS patients, when they have extra saliva, then they have trouble swallowing too. So it’s a tricky one to find the right person for that.

And then I didn’t mention it but of course the genetic study that I talked about earlier is something that we bring up with all of our patients in our clinic and certainly would welcome patients from other places to participate in helping us understand more about ALS genetics.

Seth: Great. And are you looking only for diagnosed ALS patients or a broader population?

Dr. Gibson: So we’re looking for a broader population in that in our clinic we actually ask that a spouse or a significant other, we ask them if they would be willing to donate. And that seems a little odd because they don’t share the same genes. But the reason that that’s very important is because they actually don’t share the same genes and they’re a similar age. And so that can really allow us to understand what part of the genes are just normal mutations for our population versus the ones that actually increase your risk for ALS. And then as far as family members, we definitely encourage any family members to participate as well, that are related.

Seth: Wonderful. Thank you. Now, our listeners are made up of that population. So we would invite our listeners to contact the university and offer their sample.

Dr. Gibson: That would be great.

Seth: Now, before we go to the phones, I will ask one more question. But, Amy, can you remind the listeners of the call-in?

Amy: Yeah. The phone number is 516-590-0362 and press 1 so that we know that you have a question to ask Dr. Gibson.

Seth: Great. So while we allow listeners to call in, we would like to ask Dr. Gibson, what in your mind is the greatest opportunity for our listeners to get involved in the ALS fight?

Dr. Gibson: I think probably the biggest opportunity is by sharing your story to make sure that other people know about what’s going on with you or what has happened to a family member. And I think the more that people are willing to share their story, the more that others will understand and become interested in being involved. And I think the Ice Bucket Challenge is a real great example of that, something very small that has really spread and really helped to increase the awareness about ALS. I think that things like that are so important. Of course, I also want to make sure that people are of course taking care of themselves and their family members and that they are finding an ALS clinic that they feel like really supports them and as well as their family. I think that those are very, very important things.

And then other things of course we’ve mentioned a lot about research and I certainly think that that is a tremendous gift if anyone is willing to participate in research either themselves or their family members, those are really incredible gifts in helping to improve our understanding about the disease and as well as medications that may be beneficial. And then of course doing things like donating both for research as well as for those clinics that help to support patients with ALS and support their families.

Seth: Wonderful. I know that the University of Utah Clinic is an MDA clinic. Can you briefly talk about what that means?

Amy: Absolutely. So most of the ALS clinics are sponsored by either MDA or the ALS Association. They are both very great resources. So for our ALS clinic, having the MDA support means a couple of things for our patients. One of the things that it means is that we have access to what’s called the MDA loner closet which is an exchange program where when people are no longer using an item that they donated to the MDA and then the MDA is able to free of charge donate it to another person that is in need of that item for as long as they need it. So it may be something like a walker or a shower chair but that somebody else gets used out of that for as long as they need it.

And then probably the most important thing that the MDA does and the real big reason that I think it’s just so amazing is that they helped sponsor our clinic so that we’re able to provide additional support of care for our patients so that the visit is not just a doctor seeing you but it’s also therapists that specialize in caring for people with ALS. So our therapists at our clinic include an occupational therapist, a physical therapist, a respiratory therapist, a speech therapist, a nutritionist, a social worker. And then we also have support from our pulmonologist department as well.

So the MDA helps to fund the salaries of all those additional support staff people, so it’s really an amazing thing. When people come to our visits, they only get charged for seeing the doctor but whatever their insurance does not pay more, then the MDA will pay. And if they don’t have insurance and don’t have the ability to pay, then the MDA will pay for the entire bill. So it’s really an amazing thing because we’re able to take care of patients and take care of their needs so much better than we would otherwise be able to. It just gives us access to so much for our patients. So for us, having the MDA support is absolutely pivotal and allows us to do so much.

Seth: Wonderful. Thank you. We now have a time to go to our listeners. We will go ahead and invite listener one. Listener one, you are on the air with Dr. Summer Gibson.

Caller: Hi. Am I listener number one?

Seth: You are listener number one. Thank you.

Caller: Great. Hi, Dr. Gibson. My name is Todd. I appreciate you coming onto the program today. Actually, a couple of questions. First of all, I was interested when you were talking about your genetic research with ALS patients. How frequent is it for somebody that has ALS to have a family member that is often diagnosed with ALS? Do you have an impression for how frequent that is?

Dr. Gibson: A person that is able to report either a first degree family member, so someone like their parent or a sibling with having ALS, or a second degree family member, that’s about 10% of our patients that come to our clinic. So it’s not that high but it’s still a significant portion.

Caller: One more question. It’s not I know in your necessarily line of research but I was curious if you, by chance, would have any updates. I was just aware of a trial that was conducted I think in Atlanta, Emory University, and maybe it’s now being conducted elsewhere where they are injecting the stem cells into the spinal cord of ALS patients. I was just curious if you were aware of — are there any encouraging results to this point or is it still just in the follow-up stages? I’m just not up-to-date with any of those kind of results. I’m wondering if you had any information.

Dr. Gibson: Absolutely. That’s a great question. The stem cell trial that you’re talking about out of Emory has now gone to Phase II clinical trials, and Phase II is I think really when our clinical trials begin to get exciting because they are starting to look beyond is this medication safe but is this medication actually giving the benefit? And so that trial is now on its Phase II. We have not had any results out of it. It has advanced so that it is including more institutions. And I think that’s really important because it’s making sure that the procedures can be done not only at one place but at many different places with different people performing them. So it’s an important part of that as well.

Right now we just haven’t heard one way or the other but I think we’re very excited to hear about the results in that one.

Caller: Oh, great. I’m glad to hear that. I appreciate listening to the program and I am very interested to hear your answers.

Dr. Gibson: Oh, great. Well, thank you so much for the questions. They’re great.

Caller: Thank you.

Seth: And thank you Caller 1. We do have a number of other callers and would invite them to press 1 if they have a question. Now, while we allow time for that, we’ll begin — well, it looks like we do have a question. Go ahead, Caller 2. You are on the air.

Caller: Dr. Gibson, this is David. I appreciate you being on the show. Quick question about the incident rate of ALS and I don’t know whether your genetic research is hitting on any of these. Do you find the incident rate increasing relative to the size of the population? Is there some cause that has been more prominent within the last few decades to make a higher incident of this disease and then would have been in the past? And then the second question for you is with all of the donations that are kind of flooding in right now with this Ice Bucket Challenge, give us an idea of where that money through ALSA and through the ALS Crowd where that money is going to be used and how effective the increased funding will be in helping push along a fine discovery of the cause of this and a hopeful treatment for it.

Dr. Gibson: Absolutely. Those are really great questions. So to go back to your first one about the incidents and whether or not it seems to be increasing, I think that that’s something that is on a lot of our minds. As far as we know, it appears that from our epidemiological studies that the rate doesn’t seem to be increasing. We think that it does appear to be stable but that there has been an increase in the diagnosis. We think that that’s more likely because of increased awareness and I think that allows for the diagnosis to be made. Sometimes I think in the past, if grandma was very old and she was sick and had trouble walking, they may have not been able to identify the cause and she may have passed away without additional support and nobody would have known that she had had ALS.

So I think the increased awareness has really helped to increase the number of diagnoses. And then also when you become affected by the disease, I think that broadened your awareness and ability to see other people with the disease. Sort of like when you buy a new car and you suddenly see that car everywhere. I think that’s probably if you’ve experienced it yourself that you’ve noticed more of it or heard more about it that that’s probably why that’s occurring. But it’s always something on the back of our mind and something that makes us think about whether or not there are environmental exposures or other things that could be increasing it. Really great question.

And then the second question that I think you asked was about the funds from the Ice Bucket Challenge and what that may help us do. I think that’s really a very great question that I don’t necessarily have specific answers as to what the ALS Association is going to do without those funds. My hope is that they won’t just open the floodgates and fund a bunch of projects this round but that they will increase the funding and start to support more projects overall but that it will be used for a long term push and not just a short-term flood. But I think that there is really a lot of great ideas out there and with the government cutting a lot of their research funding, it’s really important to have other resources like the ALS Association to help fund research.

Right now the funding level for the NIH is so low that it’s near impossible, not actually impossible, but for every 10 projects that are submitted and placed about only one of those will get funded. So it’s very low rate. I think when the funding rate is that competitive and that low, then it results in people having to go to other career options and it also I think makes it so that people stop putting in very novel ideas and instead go with very safe things that they feel that are more likely to get funded instead of something that’s really out of the box. So I think that there is lots of reasons to have more funding and I think it’s really a great thing.

Did you have another question there too?

Caller: No, I think that’s it. I appreciate that. We’re excited about the additional exposure that this disease is getting. We understand what the low incident rate, that there’s not much in it for pharmaceutical companies and things to — you don’t want the incident rate to increase because you don’t want other people exposed to this. But at the same time, you want more people looking at finding a cure for this. We’re just excited to have you and other people being a part of the solution. And now that we’re a part of this disease, you’re right; we are aware of what’s going on and we see a lot of other people that are also suffering through this.

I guess my last question would be for you, as a young female Dr. Gibson, if you came down with this disease, what are the few things, two or three things, you would focus on for yourself to continue to fight this and to keep your health as strong and as viable as you would be able to?

Dr. Gibson: Oh, that’s a great question. I think the couple of things I would definitely focus on family, on leaving lasting memories for my family. I think that that would be an important goal and help to maintain the desire to fight too because I think by keeping those relationships strong, that really helps to motivate a person.

And then some of the other things, we have identified some things that are clearly helpful and extending people’s lives with ALS. Some of those things are things like use of BiPAP and maintaining the current weight. So I think that those are really two big things and probably to go a long way. So those would probably be things that I would focus on. And then I, like many others, would probably want to be involved in research any way that I could to help stop the disease and help prevent other people from having to go through it.

Seth: Thank you, David, for your call and questions. You really asked some provocative things. If I could interject, David asked about how funds will be used at ALS Crowd. We are, thankfully, a very small organization. We began in February and are at this point funded by a few small donations. Those donations have increased with the Ice Bucket Challenge. We commit to our community that any and all funds will be used to advance our agenda which is to bring researchers and patients together to find a cure. Thank you for that question, David.

We have time for one more call. We will open the line now. Caller 3, you are on the air with Dr. Summer Gibson.

Caller: Oh, Seth and Dr. Gibson, thank you for taking the call. It’s a wonderful moment, 15 minutes of fame for ALS right now. What are we going to do with it? And are we being as aggressive as we need? Are we being aggressive enough right now?

Dr. Gibson: That’s a really great question. I think for many of us, it sort of has struck out of the blue and has been really very, very welcome. But you are really right in that are we doing enough to promote things along in the right direction? I think any attention to this disease is really great attention and really important and really helps to push it up in everyone’s minds regardless of their position as a medical student or as a researcher or as anyone on the streets or anywhere else I think that having awareness about ALS is very, very important. Maybe you’ll help to encourage them to come to the aid of someone that suffers from ALS in the future. So there are so many things about it that I think are really important and that increasing this awareness is very, very important.

I think though I don’t have a great answer to what could we do with this attention to really help to promote it along and so it’s not just 15 minutes of fame but a long-lasting moment. That’s a really great question and something that I encourage any of you to think about and to think of any answers that we may help with as well.

Caller: All right. Thank you.

Seth: Thank you, Caller 3. With that, we are coming to the end of the episode. Dr. Gibson, Any last thoughts you would like to leave us with?

Dr. Gibson: I would like to really thank you for allowing to be on this show. I would like to really thank you for having this show. I think that it really is very important. I really applaud you in your efforts. Other thoughts, I would just like to say that I really do believe that answers are out there, that we will find them. And I just really appreciate any patients in being able to find them.

Seth: Thank you. And thank you for your willingness and dedication to fight this and fight with us. We believe in you and encourage you to continue in what you are doing. Thank you for being with us today.

Dr. Gibson: Thank you

Seth: All right. And listeners, please do get out there and keep the Ice Bucket Challenge going forward. It’s critical that we encourage not only awareness but donation. Donate to any ALS-focused charity. ALS Crowd would be grateful to be that charity, but we also are big advocates of organizations like the Association, MDA, ALS TDI and NEALS. Get out there and get wet.

Thank you for your time. This show will be transcribed. The transcript will be posted to our website within a week. Please go out and encourage others to listen in and contribute. Thank you.