Amyotrophic Lateral Sclerosis, also known as Lou Gehrig’s disease or motor neuron disease, is a progressive neuron system disease that causes the loss of muscle control.
Over time, ALS deteriorates nerve cells in the brain and the spinal cord, stopping the communication between the brain and muscles in the body, gradually paralyzing people with the disease.
Symptoms and signs of ALS differ from person to person, and are dependent on which neurons are impacted by the disease. Some of the common symptoms and signs may include:
- Twitching of muscles
- Muscle weakness
- Trouble swallowing or slurred speech
- Difficulty breathing
- Difficulty walking
- Tripping and falling
- Tight muscles (spasticity) and cramps
- Trouble holding up the head, or maintaining a straight posture
Current Treatments for ALS
There is no cure for ALS, and the disease is terminal. It’s also not entirely clear what causes ALS.
Treatments to control the symptoms, slow down its complications, and improve the life quality of ALS patients are available, although there are no treatments to stop or reverse the damage of ALS.
These treatments include medication to slow down nerve damage, physical and speech therapy to improve mobility and speech, breathing support, as well as nutritional support.
However, the effectiveness of these treatments between patients greatly varies, and no significant treatment for ALS is available.
Different Types of ALS
ALS can either be either sporadic or familial.
Sporadic ALS is defined by occurring randomly, and not having clear factors of risk or cause. This type of ALS accounts for about 90-95% of cases.
Familial ALS is defined as being inherited from a parent with ALS, and accounts for around 5-10% of the cases. There is a 50% probability that a child of someone with ALS will inherit the disease.
There is research being done to determine which genes cause the inheritance of this disease.
Quick Facts About ALS
- As many as 30,000 people are affected by the disease in the United States
- 5,000 new cases of ALS are diagnosed every year
- People over 60 years old are at a higher risk of developing the disease
- The average life expectancy of someone with ALS is 2-5 years
- There are only 2 drugs approved by the FDA for ALS treatment (Riluzole and Radicava)
- Affects veterans, first responders and professional/extreme athletes at a higher rate than the general public
ALS Clinical Trials Registry
At Clara Health, we have our own [FREE] ALS Clinical Trials Registry where you can stay up to date on the latest clinical trials for ALS.
Our team will work directly with you to make sure that you have access to the most promising studies that suit your ALS journey.
Team Clara Interview with Sandy Morris
In January 2018, at 51 years old, Sandy Morris was diagnosed with ALS.
She now runs the Patient Advisory Council at I AM ALS, and has made it her purpose to do everything she can to help find new and better ways to treat this disease.
We have connected with her for this incredible interview, and hope that our platform can help Sandy amplify her powerful messages to sponsors, regulators, ALS patients, and the public.
Lilly:
Hi Sandy, thank you so much for getting on this call with me and sharing your story today. Could you tell me a little bit more about you and how you're connected to ALS?
Sandy:
Absolutely. I'll just start from the beginning. I was diagnosed January 6, 2018 at the age of 51. I live by Lake Tahoe, so I'm three hours away from San Francisco. And I got myself to the UCSF ER room and did not leave until they diagnosed me, knowing that something was going terribly wrong. And I kind of already knew what it was because I had already done Dr. Google.
My ALS started with right foot drop, which I just thought was because I was learning how to ride horses and I was not in a saddle that was working for me. I thought I had pinched a nerve because I was tripping over my foot. It went up one leg, it went up my dominant right leg and then it went up my left leg, and now it's taken over my torso, and more recently, kind of going over my shoulders. It's basically just going up my body is what it is doing.
I have three beautiful children, 19, 21, 23, and I have been with my husband for 31 years. Pretty much a fairy tale story up until the ALS anaconda arrived. I quickly joined a clinical trial because that's where you hear, if you're ever going to get anything to work for you in a disease that has no treatments and no cures, you need to go figure out where the investigational therapies are, so I did.
I joined a trial that was a stem cell therapy. It was a year long. I received a bone marrow aspiration, three spinal injections and four lumbar punctures with a 50% chance of having saline solution go up my spine and no ability to get the drug afterwards if I thought it worked for me. And I think it did work for me, and I can show you a chart... But it doesn't matter because I can't have it.
My family and I flew to South Korea, four times to get three more bone marrow aspirations, three spinal injections and four lumbar punctures. My last, I was supposed to go March 6th and COVID hit. I can't get what I need, and my body is showing it. It's definitely declining again. Something is working with stem cells.
I am an advocate for this disease because this is something out of the ‘concentration camp feel’ in which human lives are just not important, and so that's what we work on right now. We work every day to make sure that we build consistent and usable pathways to investigational therapies, so that people can actually receive the therapies they want today.
Today, there are 688 opportunities to get investigational therapies and 30,000 US ALS patients. That's ridiculous math. We went to the FDA first because we believed they might be part of the issue. The drug sponsors were not creating clinical trials that people wanted to be a part of. It felt way more like a lab rat or a zebrafish. And we were able to get the guidance document changed, back in September 2019
And then we ran straight out with their words, in their document. We asked for a supportive stance for expanded access so that the drug companies didn't keep believing that expanded access would jeopardize their clinical trial. And we're now working with over 22 different drug companies to show them that we won't be joining trials that looked like the one I was in and helping them along with what's important to a patient, and why we would enroll.
We then started working with the MGH leaders and we are on their patient advisory board. And they are getting platform trials up and running in the next month or so. COVID slowed it down a bit, but we will have three to five drugs at any given time with a shared placebo. We also said that we thought it was ridiculous that you require symptom onset of 18 months and 24 months, but you don't even know why.
If you know this disease you'll understand that it's heterogeneous so you can't just say 18 months or 24 months, unless you know that that's what your drug does.
We've moved that. The symptom onset is three years for the platform trial. The placebo usage is shared, which is amazing. And they're doing everything they can to integrate telemedicine visits, wearables, whatever that looks like, because you're asking crippled people with less air to get to clinical trials for 50% placebo, out of the goodness of their heart, out of their money, out of their own wallet. It's just ridiculous.
And other diseases like oncology and HIV have done this so much better. They have expanded access programs. Those are created side-by-side with their clinical trials. So if somebody doesn't make the eligibility in a clinical trial, they can say, "You know what? This didn't work to get you in this trial, but hey, we've got 20 slots, 100 slots over here for you to try to get the drug on the side, and then we can collect the real world evidence and give you a shot at this investigational therapy." That's what we've been fighting for.
In addition to that, we've set up legislation. We built the ALS Caucus in which we have 136 representatives and about 20 senators. And we built that caucus, not for a beer and bicycle feel, but really to change the landscape of this disease. We just recently got an investigational therapy pathway bill that went out last week. And it says, from here on out, your clinical trials will have expanded access.
You will no longer ever do that to a patient. And if you're a small biotech firm that doesn't have any money yet, we will find the money in NIH up to $75 million to help you get an expanded access program, and we'll build a center of excellence just like oncology has where you can call in and see what your options are. Because today, ALS is a yo-yo disease. You are absolutely on your own.
The last thing we've done in I AM ALS is that we're now rating clinical trial design. It's called Patient Centric Trial Design (PaCTD), previously referred to as Gold Standards for Clinical Trials. I'm happy to share with you, and there's three different groupings. One is creating more seats at the table for this drug. Two is advancing that science quickly if it does work, not going through the normal ‘ slow boat’ process of 10 to 12 years. And the third is being as patient friendly as you can.
And then we have a five-star rating system and we'll be posting that out on our Promising Therapies dashboard that will be out in the next two weeks. And that shows that there's 83 treatments around the world right now in varying stages of clinical trials. And people can go in there and sort by each continent and see if there is one that they are interested in or can gather more information about. That's what we've been doing.
Lilly:
Oh my gosh, Sandy, I'm sitting here with my jaw dropping. I am so amazed, honestly, by everything that you've done since your diagnosis. Oh my God, truly, I speak with a lot of advocates across therapeutic areas and I don't think I've heard anything quite like this.
Sandy:
Wow. Good, good. We hit the ground running. Because what's really scary, Lilly, about ALS is that in two to three years, 50% of us are dead. And in five years, 90% of us are dead. And this is part of the reason that this 150-year-old medical mystery is still a mystery. That once you learn about this disease and you know what you need to do to help in this disease, you're gone.
We now have set it up where it's sustainable. In fact, I was just talking to somebody yesterday. I said my voice is slowing and I've never been tired in my life, but I need succession planning. I need to know that two people will run faster and further than I have in the clinical trials team. And that's what we have to do. We have to make sure that we pass that baton to the next person that takes off for the next leg of the race.
Lilly:
You founded I AM ALS?
Sandy:
I did not. Brian Wallach and his wife founded ALS. I run the Patient Advisory Council, which spawned into four different committees. One is Community Outreach, because we believe we're better together. There were already 54 organizations. We didn't need 55. We needed to sew that quilt together of all those separate quilts squares and start touting each other, and saying what we're doing well and stop fighting each other for people and resources, recognizing there's lots of space for all of us, and we all do things differently and well.
And then the second committee is the Legislative Support Committee, which I don't run, but I'm on. And then there's Clinical Trials, which I run. And then we just started Promising Therapies, which I work hand-in-hand with Nadia Sethi, to get the information out so people don't have to Google night and day to figure out what's out there.
It will be at the touch of the fingertips, that you will see every treatment we know about and what phase it is in, and how to contact that person to get the information to see if you're eligible and if there's a clinical trial site close to you.
Lilly:
Wow. Might I also say, you speak so eloquently to this topic and I love the metaphors that you use to really talk about all of this.
Sandy:
Thank you.
Lilly:
But, first of all, I think it's criminal that you did not get an open label extension to that drug that was working for you, and I feel that way for anyone. I don't understand why we don't always have open label extension. That should just be par for the course.
I don't care what therapeutic you're on. I don't care. It should be par for the course for anyone who is putting themselves out there to participate in a trial. And honestly, I understand why companies have to do placebo, but I don't think they should have to in conditions like ALS.
Sandy:
A lot of people say that, a lot of people. And that's the hard part is that people are like, "Well, if that treatment didn't work for you, then you can qualify for EAP." And so now I speak with regulators and leaders and legislators and neurologists about why Single EAP works in other diseases in which there are treatments that are not working for some or for one.
But in ALS there is nothing, so it is not a one-off, we all need it. And it is, it's absolutely cruel that I know that my body stabilized for 13 months, like I only dropped three points. Now I'm dropping a point a month.
It's a blow, and where I get worried is that I have such a strong belief in humanity. I absolutely believe that if people understand and they have the tools to help, they will. And it's tough to think that people can just say, "watch this," as a science experiment and let all the patients die, and they have. And this is not the first trial that people have felt like they stabilized or even got better, they shut the trials down, and then all those people died. It's well-documented.
Lilly:
You were traveling to South Korea. How did that work? Was this outside the trial that you were seeking additional treatment or were you literally going to South Korea for the actual trial?
Sandy:
No. For the trial, I went to San Francisco 14 times in 11 and a half months, and I'm paralyzed in both legs so my family carries me. When I could not get the drug anymore, and I knew that, I signed a contract for that, the closest thing I could get to it was Corestem with Dr. Kim, who had studied under Dr. Stanley Appel, a famous ALS doctor here in the states. And I had confirmed that this is as close to the drug I was getting as I could get.
I was scared, and I had to... well this is too much information, but I can't use the airplane bathroom. I would have to not go to the bathroom for 12 hours, eight different times, right? And then my family would carry me into the hotel and then to the hospital. It was an undertaking.
They are a class act though I have to say. I was so impressed with the staff over there in South Korea. And the very first time I was scared, I wasn't sure, what's it going to feel like? Would it be like a back alley abortion or what was I really flying into?
It was very unnerving, but it actually was amazing. A bit barbaric though I'll have to tell you. Very painful. You only get lidocaine. They don't believe in anesthesia for ALS patients... They do it right in your bed. They are plunging bone marrow out of your hip bone. It is like fire. They said that they were proud of me, but they said grown men have just screamed.
Lilly:
And so did you have to pay out-of-pocket for all of this?
Sandy:
Well, $150,000 for the treatment, and that doesn't count any of the flights and the hotel accommodations.
Lilly:
Oh my God. It's just, it's stories like these that remind me how far we really have to go in healthcare in this country, and it really does break my heart. And I'm sure that you hear that all the time..
Lilly:
Now that you've been in this clinical trial and you were going to South Korea, I know it sounds like everything's on pause, do you have plans to join another clinical trial? Are you able to?
Sandy:
Probably not. With the COVID delay, I will be three years from symptom onset in August. I am thinking within two months I will be disqualified from everything.
Lilly:
And forgive me if you've mentioned this before, but is that something else that you're working on in terms of clinical trial design, asking that companies consider expanding eligibility criteria for trials?
Sandy:
Absolutely. We have already made sure they do. Because what they were doing in the past was just pulling a page from an old binder and putting it out there for the trial. And we have two companies right now that are going to try it again, and they're going to be sorry because we're not signing up for that anymore.
If you're not scientifically validated in your eligibility criteria, if you don't know why you put 18 months from symptoms, we will be all over that. If you don't know why you put 60 years of age or less, we will be all over that. You can't pick a human age cutoff, you can't pick a symptom time from onset unless you understand what your drug does and that it absolutely won't work for people that are 60 years and one month old.
Lilly:
Okay. When you say "we" is this the committee that you've been working with at I AM ALS?
Sandy:
The Clinical Trials Committee that I've been working on for two years, this is people that we've worked with the FDA, we work with the drug sponsors. The cool part now though is the drug sponsors really are saying, "Help us set up an expanded access program. You don't need to convince us we need one. Show us the best way to do it." Because companies are worried.
It’s like an imperfect lottery, if you will. How do you choose 100 people when you have 30,000 US ALS patients? But what we're saying is more seats on the bus is what we need. If there's only 688, we've got to figure something out. And if that's even just starting with smaller EAPs and clinical trial design that people want to join and humans want to join, not zebrafish want to join, then that's going to help our case.
And with this platform trial, there's going to be a lot of participants needed in that, which is super exciting. And it is set up so well because those neurologists are such compassionate, brilliant leaders. They brought us in as patients and allowed us to help them set up, design that eligibility. I mean, anybody that you work with in all honesty, Lilly, should follow along with what the platform trial is doing. And then, you know you're in the right speed.
And then, like I said, we'll be rating all the clinical trial designs from here on out. And if you get a half a star or a one-star, that is not going to be very good for your trial in trying to enroll patients.
We have nine elements we are asking companies to integrate into clinical trials including open label extension, incredibly important for the reasons we just discussed, right? Minimize your placebo usage. Eliminate it where you can, but right now minimize it, 33% or less for now.
Get a side by side, small expanded access program in there. If you say you are a company that cares, show us. Do not put beautiful pictures of people laughing on your website and try in cheeky ways to tell us that you’re patient centric. Show us you care with an open label extension, show us you care with the expanded access program.
Know that this disease is heterogeneous. Make sure your design reflects that. Show us that you recognize it's not going to work for everybody. Your run-in observation period... In my trial that I was in, I had a three month run-in, so they watched me be more and more crippled each month before I could be accepted, not okay.
Lilly:
No, it’s not.
Sandy:
Another element is that eligibility criteria needs to be scientifically justified.
Make sure that you have a biomarker in there that you're using and sharing. The one that is important and not always done today. Have an unblinded review panel so that if there are unprecedented results in your trial, you can report it.
In ALS, people are stopping their progression or lifting their arm or moving a foot, get in there and quietly see how and why. Don't only go in there because the already dying patients are dying faster. Get in there to see why people are doing unprecedentedly well on this drug. And that does not happen today.
And then reducing the travel burden by wearables, telemedicine visits.
Lilly:
Yeah, this is incredible. And truthfully I think that what you designed here is really applicable across any therapeutic area. I think you've got something here that really everyone should be listening to.
Sandy:
We'll continue working on this, it's not complete yet... but it's showing that the FDA leaders absolutely back these elements up.
Lilly:
And is there anything that's important to you as we develop this article? You've shared so much rich information, but is there anything important to you that we communicate in particular?
Sandy:
I appreciate that question. I like that question. I would basically just say that we need to work on the ALS clock, right? I lost the privilege of working on the human clock on January 6, 2018. My clock is a lot faster. People do not work with speed or urgency here. They don't understand that this is a uniquely cruel disease and that really deserves different measures, different processes, faster protocols. We're in the same lane as Viagra and sunscreen, and COVID has shown us that that does not have to be the case. If you care about a disease, if you care about it impacting the masses, you will work quicker.
And so in ALS, I told you how fast we die, which is incredible. And it's not just that we have to die, it is a brutal, brutal way to die. You will stop breathing. It's almost like an anaconda, where it's just going to start taking every piece of you until it's weakened your diaphragm so much that you will die. I mean, honestly, just for that, we should be looking into this faster than we are. And people like to compare it to other diseases, but it's not. And I don't like to compare it to other diseases.
I want everybody to do as well as they can in, obviously, in their own disease, but HIV and oncology have privileges that ALS does not. I think the message I want out there is we've got to work more quickly for a disease that deserves it. This disease is on the rise. People think it's older, white men. I mean, we have nine year olds and 21 year olds. And it's just, it's misdiagnosed, it's miscounted, and it needs a little respect. It needs a little money, it needs a little structure and it needs a little humanity. And basically all of that has been lacking, and that's what we have to change. That's what we have to work on.
Lilly:
That's really powerful. And you brought up a point that actually I wanted to ask you. You're right, we always do think of men in particular as being the classic type that’s diagnosed with ALS. As a female, what has your experience been like?
Sandy:
I know tons of females that have ALS. It's just, like I said, it's in the dark ages and we need to bring it forward. I know children. I know a 21 year old. It hits our vets two to one. It hits our first responders harder. It hits our extreme and professional athletes, thus Lou Gehrig's disease. And then the part that I think the world should know and maybe care about is that it's a 69% increase in this disease by 2040, and then maybe we'll start caring.
Lilly:
Why do you think that publicly there's not this accurate depiction of the population that this impacts?
Sandy:
It's the one disease that no doctor wants, right? If you ask them the one disease that they cannot handle, it's going to be ALS. It's a huge neurodegenerative disease that has really left everybody kind of speechless and in awe and fear of it.
But once we get a line on ALS, we then have a line on Parkinson's, MS, all the others. I mean, all the neurologists say they will all be intertwined. We don't just fight for ALS, we fight for neurodegenerative diseases that need the same level of respect as some of the other disease states have. We are fighting for a center of excellence for neurodegenerative diseases at a FDA level. We asked when we went to the FDA, if we could get a department of neurodegenerative diseases and stop trying to parcel out the diseases one by one and fight for funding, but actually get a moonshot approach to it so that we all win.
Lilly:
Yeah. And switching gears I wanted to ask how this has impacted your family?
Sandy:
Oh my gosh, my family is so amazing. I'll send you a picture. We just bought a wheelchair that stands me up, that looks like a tank.
I call it the Terminal Terminator, that walks along. It will go up grades. We just bought 17 acres of property, 20 minutes from our home, and then we just bought this tank of a wheelchair for me to be able to be alongside them.
My family continues to adapt and make it work for us. They are incredibly brave, patient and capable. We use a lot of humor. We laugh when probably most would cry. And I have three children who are very, very strong, as we all did CrossFit together before I was diagnosed. They carry me from trucks to bed, to wheelchair; and my husband does the same. And they keep me very safe.
It's a dangerous disease because you fall and you hit your head, and then that's not good for us. Or you break a bone and that's not good for us, but really tough to avoid when your body is giving out. I think my family and I have done incredibly well. We're not robots, and we say it's absolutely a cryable disease. If you want to cry, that's fine. I'm not much of a crier, so we just hit it head on and approach it as if we chose it. There's no way of getting out of it, so any other reaction to it isn't really going to work.
It doesn't mean it's not upsetting on some days when they can see that my mobility or my air is getting worse, and that terrifies them. My 19 year old should not be worried about losing his mom. He should be focused on graduating from high school and doing all the things that 19 year olds do. But that's not how this story is going to go, and we're getting good with it.
But I will say this, Lilly, if the people in power, if the leaders, the legislators, the key opinion leaders really looked in to the ALS windows and watched a family gather around that person that they love more than themselves and do the most unselfish, undignified things for that person, you could not look away. Like we talked about before the interview started, COVID and Black Lives Matter, all of that deserves compassionate leadership, so does ALS. And if you can look inside a window and you could watch what these ALS families go through and you could walk away, you're not just not a leader, I'm not even sure if you're human.
Lilly:
That's really, really powerful. You have a powerful way of speaking and communicating that I am very sure has really helped to move mountains in ALS research. I know that there is still a long way to go, but it sounds like you've already done so much. And I understand why, because you have this remarkable way of communicating and passion and brilliance, so I give you all the credit in the world for taking something that was obviously the last thing that you probably ever wanted and being able to make meaning out of it and do so much for others. Truly, you are paving the way for so many future patients and caregivers, and existing patients and caregivers. Thank you so much for taking the time and for sharing your experience with me.
About Clara
Clara Health is a patient-centric platform that helps patients find relevant clinical trials & research studies. We believe that all patients should have the ability to access the most advanced healthcare available and we work to make this process as seamless as possible.
Want to see what Clara can do for you?
- Sign up for ClaraHealth [FREE]
- Filter through 50,000+ clinical trials to find the studies that fit for you
- Let us be your helping hand! We can walk you through the process of finding and applying for clinical trials.
Additional information on clinical trials:
