Atlanta (January 4, 2021) Michele and Kent Stahl and their family today announce a $1 million donation to support the CMT Research Foundation’s $10 million ENDGAME: the Campaign to End CMT1A. Since the soft launch of ENDGAME in September, families and friends with CMT* have pledged over $4.6 million.
“The Stahl family started something very surprising and special,” says CMTRF board member and ENDGAME campaign chair, Peter deSilva. “We knew that families were interested in being a part of the solution; we set a 3-year goal to raise $10 million. To raise almost half in just a few weeks, ignited by the momentum started by the Stahl family, exceeded every expectation.”
Michele and Kent’s son, Austin, was diagnosed with CMT1A when he was 16 years old. Having difficulty with his balance and walking, it took years for him and his family to understand the cause. His mother Michele recounts, “we spent seven years searching for an answer. We visited the best doctors in Boston, including neurologists at Brigham Women’s Hospital and Massachusetts General Hospital. It wasn’t until we found one doctor who suspected it may be CMT and ordered a genetic test. After years of searching, we finally had a diagnosis.”
Once diagnosed, Austin and his family learned that there were no treatments for CMT1A that could slow, stop, or reverse the progression. For the family, getting the diagnosis was an important first step. But learning that CMT was progressive and that there were no treatments despite being as prevalent as MS, which has over a dozen treatment options, was devastating to them.
“Susan Ruediger, one of CMTRF’s co-founders, was the first person aside from my son who I met who had CMT. When we met in my living room I was comforted. She showed me her leg braces to help her walk and I heard her story about living a full and productive life. But I also saw how much she struggled,” says Michele. “I saw what the future held for Austin and I knew that, together, we had to do better.”
“Susan and Pat (Livney, Chairman and co-founder of CMTRF) live with CMT every day. They ache when they get out of bed, they struggle to get dressed, they feel the daily implications of CMT in ways that those of us without CMT can’t. Like Austin, they can’t forget their CMT for one minute. That experience drives them in unparalleled ways to find anyone who can change the course of this disease,” says Michele.
The Stahl family quickly partnered with Susan and Pat by making a significant donation when the Foundation launched in 2018. Their money was immediately put to good use, funding two projects for CMT1A. Being a funder in the early work of the two genetic approaches to treat CMT1A was exciting for Michele and Kent. But watching those projects’ success garner additional NIH funding and private equity investments was thrilling, especially for Kent who worked as an investor for over 30 years.
“I remember when Susan told me that DTx Pharma raised $100 million on the heels of the CMT1A program initially funded by our donations. My eyebrows went up – I then knew that I had to jumpstart more projects like these to increase the likelihood of developing successful treatments for Austin. A second research project funded by our donations also just received private equity investment. It was based in part on Dr. Scott Harper’s doctoral thesis in 2006, but the research never advanced due to lack of funding until CMTRF’s investment in 2019,” says Kent. “To think we could have had a cure 10 years ago with appropriate funding is disheartening. Our son, like the millions of others afflicted with CMT, has done everything in his power to keep his body in peak physical condition to lessen the deterioration. Now it is our turn to act and become part of the legacy that ends CMT.”
The CMT Research Foundation is already at work scouting projects to put the money to use and building a pipeline of projects to fund. Proposals have been discussed with investigators around the world and the scientific momentum is palpable.
“We’ve started a movement to end CMT1A,” says Michele. “That’s exactly what we hope our gift would do.”
To learn more about ENDGAME: the Campaign to End CMT1A, please visit https://cmtrf.org/cmt1a-endgame/
The CMT Research Foundation (CMTRF) is focused solely on delivering treatments and cures for CMT. Founded by two patients who are driven to expedite drug delivery to people who live with CMT globally, the organization funds research for drug development. The 501(c)(3) federal tax-exempt organization is supported by personal and corporate financial gifts.
*Charcot-Marie-Tooth encompasses a group of inherited, chronic peripheral neuropathies that result in nerve degradation. CMT patients suffer from progressive muscle atrophy of legs and arms causing walking, running and balance problems and abnormal hand and foot functioning. CMT affects one in 2,500 people (about the same prevalence as multiple sclerosis) including 150,000 Americans and nearly 3 million people around the world. At the moment, there is no treatment or cure for CMT.
