Susan Ruediger is the founder and CEO of the CMT Research Foundation — a nonprofit organization with the single focus to expedite treatments and cures for people living with Charcot-Marie-Tooth (CMT). Susan also serves as a member of the Patient Advocacy Advisory Council for the Institute for Gene Therapies. CMT is a genetic nerve disease that causes the nerves to deteriorate and muscles to weaken. For some people, the progression is slow and causes a mild disability that progressively gets worse. For others, CMT can advance quickly and cause severe disability, sometimes becoming fatal. There are currently no treatments to slow, stop or reverse the progression of CMT.
As part of our Patient Perspective series, we talked to Susan about her interest in gene therapies and her work to help advance treatments for CMT during our lifetime.
Tell us about your background and how you became an advocate for CMT patients.
I come from a family with six generations of CMT. I was diagnosed at 18 months but didn’t know I had the disease until my parents told me at age 16. By that time, the disease had begun to affect how I moved. But because the changes in my body were manageable, I was able to ignore my condition initially.
The moment my daughter was born, all that invincibility vanished. That’s when I knew I had to do something to fight for people like my family members who suffer from CMT. I couldn’t allow its devastating effects to continue for another generation.
I started a support group in my local area. Through that group, I got connected to the CMT research community. The first time I saw rats with toes and feet that looked like mine started my relentless journey to accelerate research for CMT treatments. If scientists can create rats that have CMT, I’m confident they can cure it.
We all have witnessed patient-led research change the face of drug development. I see my job as being the connector between patients who have the passion and researchers who have the scientific expertise to deliver treatments.
Why is gene therapy so important for the CMT community?
There are no treatments for CMT today. That’s not an acceptable reality for CMT patients and our families. Gene therapies are particularly attractive because CMT is a hereditary genetic disorder. The research to date tells us that if we can silence the gene that causes CMT symptoms, we can essentially solve the problem at its root.
I think about it this way: If you have a water leak in your house, the first thing you need to do is stop the leak, not get a wet vac.
Another benefit of gene therapy is the possibility of not having to be on medication for the rest of your life. Gene therapy offers the potential for fewer treatments, maybe even a single treatment. That would be huge.
What are some of the major barriers to access that you see?
Since many types of CMT are not fatal, regulatory approval may be more challenging than for diseases with higher mortality rates. One of my goals is to increase awareness about the need for gene therapies for many different kinds of diseases because there’s a great opportunity to positively impact people’s lives.
We also know there will be challenges with manufacturing enough of the gene therapy so that every person who wants it can get it. CMT is relatively common in the realm of rare diseases – it has the same incidence as multiple sclerosis, for example. Gene therapy manufacturing is even more complicated than making typical pharmaceuticals and biologics, so developers will need to work through how to make enough of the therapy to match the size of the patient population.
Lastly, any gene therapy needs to be priced and covered by insurance in a way that allows patients to get it.
As a Patient Advocate Advisory Council member, what do you hope IGT will accomplish?
I am excited to work with IGT because by coming together with others, we can help increase awareness about the urgent need for treatments for CMT and other diseases. We can also help convince payers that, when treatments exist, patients deserve to have access.
Why do you believe IGT’s mission is important?
While gene therapy has been studied for years, it’s a new concept to many people. It can be an uncomfortable topic for anyone who isn’t aware of how far science has progressed and the benefits patients are starting to see from approved therapies. I believe IGT can help demystify gene therapy and help make its effectiveness better understood. IGT and its partners can help open the conversation about the positive potential impact of gene therapy.