On June 22, 2023, the Charcot-Marie-Tooth Association (CMTA) hosted a virtual focus group dedicated to Charcot-Marie-Tooth disease type 2C (CMT2C). For three and a half hours, individuals and families shared their diagnostic journeys, the impact of CMT2C on daily life, and their hopes for future treatments with the CMTA Team and representatives from Actio Biosciences, a biotechnology company leading the charge in the development of a treatment for CMT2C.
About CMT2C
CMT2C is a rare type of CMT caused by mutations in the TRPV4 gene. It often leads to vocal cord paralysis, respiratory muscle weakness, hearing loss, and significant weakness in the extremities. CMT2C spans a wide spectrum of severity, with symptoms that can begin at any age.
A Platform for Patient Voices
The afternoon gave the community a chance to speak directly about their experiences, the symptoms that matter to them, and give their views on potential new treatments. Stephanie Carmody, a key CMT2C community leader, described the meeting as a chance for drug developers “to actively engage with key experts from the CMT2C patient community, enhance the understanding of their journey, identify unmet needs, and gather valuable insights for future treatment goals.” For her, the focus group “provided a platform for patients to directly share their diagnostic journeys, the impact of symptoms on daily life, and their treatment priorities in a way that will contribute towards the development of future treatments.”
Rod Pollard, who lives with CMT2C, told the Actio Biosciences team, “From everything I see, it looks like you are moving forward with what may be a very effective treatment. Even though it is not a large patient population, it could mean everything to us. I want to thank you for the research you are doing and what might come of this.”
For Rita Dravucz, the hope was deeply personal. As the mother of a daughter with CMT2C, she closed simply with: “I want to thank you — you are our hope.”
Looking Ahead
Reflecting on what he heard, Dr. David Goldstein, CEO of Actio Biosciences (Actio), said the meeting “provided an invaluable opportunity to learn about the challenges faced by individuals living with CMT2C and reinforced the urgent need for treatment options.” He emphasized that the openness and candor of the participants will directly shape clinical development, adding that the Actio team is “even more committed now to the journey we are on together to improve the lives of those living with CMT2C.”
The focus group came at a time when research momentum is growing. At Johns Hopkins University, Bipasha Mukherjee-Clavin, MD, PhD, and CMTA-STAR Advisory Board Member Charlotte Sumner, MD, are leading a natural history study that helps us understand how CMT2C affects patients and investigates how TRPV4 gene mutations damage nerves.
Join the CMT2C Natural History Study
The next chapter for CMT2C is already unfolding. The CMT2C Natural History Study at Johns Hopkins University is now enrolling community members age 3 and older. Over the course of the study, researchers will track how CMT2C progresses over time and gather the data needed to guide future clinical trials. If you have CMT2C, your participation will help build the foundation for treatment development.
