Amplifying Patient Voices to Drive Multiple Sclerosis Research

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Every multiple sclerosis (MS) patient has a different experience, and understanding these experiences is imperative for effectively treating all patients. How can we repair the neurodegeneration caused by MS to move toward better treatments to cures?

In a recent discussion Tim Coetzee, PhD (Chief Advocacy, Services and Science Officer, National Multiple Sclerosis Society), Valentina Fossati, PhD (Senior Research Investigator, The NYSCF Research Institute), Teresa Wright Johnson (Lyfebulb Patient Ambassador), and Karin Hehenberger, MD, PhD (Founder & CEO, Lyfebulb) explored how patient voices can inform MS research and its road to better treatments and cures. The discussion was moderated by NYSCF’s Raeka Aiyar, PhD.

“I have always believed in the power of the patient voice and patient-driven research,” noted NYSCF CEO Susan L. Solomon, JD in her opening remarks. “I started NYSCF as a patient advocate for type one diabetes, and we are deeply aware that patients play a critical role in the process of realizing the promise of new therapies.”

How can we approach MS research with patient voices in mind?

Dr. Fossati’s interest in exploring MS using stem cells came after her own diagnosis with the disease in 2009. She was a postdoctoral fellow and had recently learned about the advent of induced pluripotent stem cells – stem cells made from a person’s skin or blood that can be turned into any cell type in the body, all while retaining the individual’s genetic blueprint – and saw an opportunity to use them to study neurodegeneration.

“Exactly at the time [induced pluripotent stem cells were invented], I was diagnosed with MS,” she recalled. “I started reading a lot about the disease and tried to understand everything that was known, but I really focused much more on what was not known. There were many studies on immune cells [the cells that ‘go rogue’ and attack brain cells in MS], but not many on brain cells themselves.”

“[Because of this], I have dedicated the last 10 years to developing these recipes so that we could learn to make all the different cell types in the brain [from stem cells],” she continued. “This is something that opened up opportunities for studying MS, but also other neurodegenerative diseases in which these cells are affected such as Alzheimer’s disease and Parkinson’s disease. And now we’re moving toward testing drugs in patient cells to hopefully create a new generation of drugs.”

For Dr. Hehenberger, her interest in chronic diseases such as MS came as a result of her ongoing battle with type 1 diabetes.

“My own disease is type one diabetes, which I’ve lived with for 31 years,” she said. “There is not a day that goes by where I don’t think about a cure. I wanted to direct my energy, my mind, my intellect, and everything that I had toward improving the lives of those living with diseases such as mine. I learned pretty quickly during my education that diabetes was similar to many other diseases, and auto-immunity and immunology is something that is truly interesting to me. I also learned through my patient experience that what we experience as individuals living with the disease can really help others living with other diseases.”

“There are many similarities between patients living with cancer, type one, MS, IBD, and more, and we need to share those experiences with scientists to improve treatments and eventually find cures,” she continued. “When I started Lyfebulb together with two fantastic friends and colleagues six years ago, it was with a goal to close the gap between patient communities, where I was a part, as well as industry and companies where research was being conducted.” 

Ms. Wright Johnson is a dedicated patient advocate whose drive to help others and shape effective research stems from her own experience as a patient.

“I truly personify the power of the patient voice,” she remarked. “My patient journey began at birth. I was born with congenital heart defects. What I’ve learned is to stand in my truth and use my experiences to empower others. My diagnosis of multiple sclerosis came in 2014, and though I was already what many would consider a ‘seasoned patient,’ we all know with new diagnosis comes new normals, new limitations, and things that we don’t necessarily foresee or prepare for.”

“There was no one that I could reach out and say, can you tell me about this? What do I look for? Even the literature was very limited. I resolved to use my personal experience as a patient and my professional experience in human services and public service to let people know that they aren’t alone, and to let people understand that a diagnosis is not the end of life – to show there are people who can be here with you, and who can be here for you.”

Dr. Coetzee’s interest in MS began when he started working in a lab funded by the National MS Society.

“That actually [helped me to start] understanding the nature of the disease,” he noted. “At that point, I was largely just a science nerd focused very much on the brain and its structure, and I didn’t really think about the disease or the ‘people’ aspect of it. It was the infusion of being in an environment with this funding organization and being around people with MS to help me understand the experience of living with MS, and that really began to change my worldview.”

“Now, [at the MS Society], I’ve had the privilege of being part of our research teams and facilitating the training of the next generation of MS researchers,” he continued. “We also really focus on the way science, people, advocacy, and policy all intersect with each other to change the journeys that people experience living with MS. Without effective public policy, it doesn’t matter if we have 50 disease-modifying treatments if people can’t access those treatments or can’t afford them.”

What do we know — and don’t we know — about what causes MS?

“MS is defined by the National MS Society as an unpredictable disease of the central nervous system that disrupts the flow of information within the brain and between the brain and the body,” explained Dr. Aiyar.

Essentially, in patients with MS, the immune system attacks myelin, the protective coating surrounding nerve fibers that helps them send signals. This can lead to symptoms such as numbness, weakness, vision loss, tremor, fatigue, and cognitive impairment. 

A patient’s MS diagnosis has been traditionally classified into one of three major groups: relapsing-remitting MS (in which a patient’s symptoms come and go), secondary progressive MS (in which symptoms from relapsing-remitting MS begin to persist), and primary progressive MS (a rarer, yet severe case in which patients immediately show persistent symptoms without ever undergoing the relapsing-remitting phase).

A major challenge in treating all forms of MS is that researchers still do not understand what triggers the disease.

“The challenge of this disease is that if you asked me what causes MS, even after 150 years of scientists studying it, we still don’t know,” said Dr. Fossati. “But we have learned many things. As Tim mentioned, in the past 20 years, many drugs have become available. They can, in some cases, be very effective for patients and make them feel much better. But the real challenge right now is understanding and curing progressive MS. Unfortunately, we still don’t have very effective treatments for progressive patients that have already acquired a huge disability and who may no longer be able to walk well or are in a wheelchair.”

“One of the reasons I am optimistic that we’re going to make progress around addressing the challenges in progressive MS, and relapsing-remitting MS, is that we now have the tools to be able to understand what is causing nerve damage and neurodegeneration, so that we can begin to intervene and tackle some of those underlying aspects,” noted Dr. Coetzee. “I think we will get to a future where we can also begin to tackle the aspects of the disease that are often invisible: what is often unseen is the fatigue, pain, cognitive challenges, and all the neurodegenerative aspects that lie below the surface. The biology behind those effects is very challenging [to understand]. But tools like stem cell research and other international collaborative efforts are revealing the root of it.”

How are stem cells helping us understand and develop new treatments for MS?

“The drugs we currently have are mostly aimed at blocking immune cells,” noted Dr. Fossati. “[My team is] working on complementary treatments that would actually allow the regeneration of the myelin in the brain.”

Dr. Fossati’s team uses stem cells to create the different cell types in the brain (neurons, astrocytes, oligodendrocytes, and microglia) and study their behavior – teasing apart what drives neurodegeneration and testing drugs on the actual cells affected by MS to see which may prevent myelin degeneration or stimulate myelin formation.

“We can do what we call a ‘clinical trial in a dish,’” said Dr. Fossati. “The idea is that we can test drugs on patient-derived cells to understand which are strong responders. We really hope that this is going to improve the success of drug development.”

“When I started in the MS community, nobody was willing to talk about the idea of recovery of function,” remarked Dr. Coetzee. “You would have been laughed out of the scientific meetings if you thought about it. And yet today, we’re talking about myelin repair strategies. It’s very exciting.”

Why is each MS patient’s experience different?

“What are the triggers for MS? Often, it’s a combination of genetics and exposure to different environmental factors,” said Dr. Coetzee. “Unfortunately, there’s no single element that we can point to, but we do know that it’s a combination of variables and that it is those variables early in life that probably set a trajectory for that person.”

“We are also now beginning to learn how race and ethnicity play into this. And the fact is that for too long, our understanding of the disease has largely been defined by studying it in Northern European settings,” he continued. “But we now know that it’s just flatly incorrect and that there’s important work around the fact that Black women have a higher risk factor for developing MS relative to white women of the same age, and teasing out those differences will help us treat MS for the entire community.”

Rare pediatric cases of MS could also inform our understanding of what causes the disease.

“What’s little known is that children do develop MS. It’s not a large number of children, but as early as six, we’ve had instances of young people diagnosed with MS,” said Dr. Coetzee. “We’re learning in those very young stages about the triggering factors that can also help us understand who’s at risk of developing MS in the adult population.”

How can we better serve the underrepresented communities affected by MS?

As Dr. Coetzee noted, Black women have significantly higher risk of developing MS, and ensuring that ethnic minority patients are represented in research and provided access to reliable clinical care is imperative for finding better treatments and cures as well as improving patients’ quality of life.

“I’m a Black woman, and we are underrepresented,” said Ms. Wright Johnson. “I want to be a vessel that will inspire and empower through my life experiences and through the experiences of others so that we can move innovation forward and find a cure. I also want all of those who are underrepresented know that not only are they entitled to health care and representation, but that if we don’t move this forward, then we’re really not where we need to be.”

“Furthermore, when we talk about these gaps in treatment, research, and healthcare, we have to acknowledge that accessibility is not there for everyone. Until we can get to the bottom of that, and until we can open avenues and doors to accessibility, then I think we are going to continue on this road.”

Dr. Fossati is optimistic about the power of stem cells for studying MS across many ethnicities.

“As a stem cell biologist, I’m very thrilled about what we are able to do now with technology,” she remarked. “We can make stem cells from patients – hundreds of patients. And at NYSCF, we want [to make stem cells from] a diverse panel which includes as many ethnicities as possible. For example, we have an ongoing collaboration with Dr. Peter Calabresi of Johns Hopkins where we are specifically recruiting African American patients.”

“So for the first time, we are reaching a moment where we have access to creating ‘avatars in a dish’ that represent the genetic diversity of the patient population,” she continued. “And we are very much looking forward to dissecting what makes some ethnicities more at risk than others at the cellular level. This is not going to be the full answer because there are all the other [environmental] components, but it’s an important piece.”

How are patient voices making an impact on MS research?

Patients can help researchers understand the many facets of a disease and point to which issues need to be addressed most urgently.

“This is why the patient is so powerful,” said Ms. Wright Johnson. “For someone like me, one of my main symptoms is pain. Pain is really understudied in this space. So, when we treat multiple sclerosis and we look at the disease as a whole, you have to look at the entire person, not just the cells and the scientific markers. We want longer lives, but we also want a better quality of life. We want to be active participants in our quality of life.”

“In the last five to seven years, I have seen a transformation in the research community, and the perspective that Teresa shared underscores that it’s not just about the science, it’s about ensuring that people living with MS are able to live fully in life,” agreed Dr. Coetzee. “I’d say that’s been one of the biggest changes, is that the community and people affected by the disease are coming together to shine a light on where the biggest gaps are, and then figuring out how to focus on those areas that improve quality of life.”

Lyfebulb recently hosted an Innovation Challenge where individuals either living with MS or directly supporting someone with MS presented tools for improving patients’ quality of life. 

“We had one cohort of individuals who had built robots to help those with the very progressive kinds of MS, where it’s debilitating and patients can’t use their arms or hands to feed themselves,” said Dr. Hehenberger. “This is the kind of MS that we hope we don’t have to see going forward because we hope that we can diagnose earlier, but we can hopefully prevent some of these very terrible consequences.”

“Our winner was a young man whose father had MS, and he had come up with a very interesting approach to foot drop [a common MS symptom that makes it difficult to lift the front of the foot to the correct angle during walking]. And it would be a tool where the patient works with a therapist, so it had the benefit of not just addressing the actual foot drop, but the training for future walking.”

“What I found really fulfilling was seeing the patients take the active role in not only improving the quality of life for themselves or someone they love, but something that will be sustainable in the future,” said Ms. Wright Johnson, who served as a judge for the Challenge.

What new hope is on the horizon for MS patients?

“We are already moving toward personalized medicine,” said Dr. Fossati. “We have different medications available, and we now have technology to scale up experiments and examine across hundreds of patients. I really think in the next decade, we will be able to discover many biomarkers and many subtypes to understand the diversity of patients and form more personalized approaches.”

“I’m optimistic that we’ll have the tools we need to diagnose and monitor the disease much more quickly and that the treatments that we’re developing both for relapsing/remitting and progressive MS are getting more effective,” agreed Dr. Coetzee. “We’ll aspire to make MS a smaller and smaller part of a person’s life. I’m also incredibly optimistic about the voice that Teresa and people affected by MS are bringing to keep the light shining on how we address the hidden aspects of the disease and other systemic and societal issues that affect how people living with the disease can receive the highest possible quality care.”

“I think the fact that an institution like NYSCF that is so focused on stem cells and science is allowing for the patient voice to be heard and bringing that to your community gives me great hope for the future,” remarked Dr. Hehenberger. “I think if premier research institutions start listening to those who are living with the disease and then come together with a comprehensive approach that addresses the overall person, that will be the goal, because it’s not a one-shot solution.”

“I am very hopeful for the future,” said Ms. Wright Johnson. “Every day is not a good day, but every day that I’m here means that something great can happen. And my hope as a patient is to one day see a cure, but also to let people know that they aren’t alone, that their experiences matter, their life matters, and their voices matter.” 

Diseases & Conditions:

Multiple Sclerosis