TRPV4 Hereditary Neuropathy Patients Connect with Johns Hopkins Experts to Push Research Efforts Forward
Community connected with the TRPV4 HN team at Johns Hopkins
By Stephanie Carmody, TRPV4-related hereditary neuropathy (Charcot-Marie-Tooth type 2C) patient.
When you are diagnosed with an ultrarare type of hereditary neuropathy, connecting with others who share your diagnosis is invaluable. Six years ago, after searching my entire life, I finally received a confirmed diagnosis of CMT2C, one of the TRPV4-related hereditary neuropathies (conditions caused by mutations in the TRPV4 gene that affect the nerves controlling muscles and sensation). Through a Facebook group I developed, I was able to bring together individuals affected by TRPV4-related hereditary neuropathy from around the world. Over the past five years, that group has grown into a supportive and active community dedicated to sharing experiences and navigating our challenging disorder together. Several of us even met in person in 2018 to testify about the burden of this disease at the HNF-hosted Externally-led Patient Focused Drug Development meeting for the FDA in Silver Spring, MD.
I soon realized we represented a powerful advocacy force and began exploring ways to connect with leading research experts. I was fortunate to connect with the TRPV4 HN team at Johns Hopkins, which led to a virtual meeting between our Facebook group members and leading experts Dr. Brett McCray and Dr. Charlotte Sumner on December 4, 2020. The meeting included a research update and a detailed question-and-answer session, with both parties learning from each other.
Patient advocacy and involvement in the research process cannot be overstated. The Johns Hopkins team has made significant advances and is now launching a TRPV4 Hereditary Neuropathy registry that will serve as a natural history study in preparation for future clinical trials. In a breakthrough study published in May 2020, the team further identified the underlying mechanisms of our disorder and tested a potential TRPV4 antagonist (a compound that could block the overactive protein) in fruit flies and cultured primary mouse neurons. The ultimate goal is to investigate whether a TRPV4 antagonist may be a viable treatment option for TRPV4 HN patients.
How to Get Involved
- If you have been diagnosed with TRPV4-related hereditary neuropathy (CMT2C, Scapuloperoneal Spinal Muscular Atrophy, or Congenital Distal Spinal Muscular Atrophy), email Dr. Brett McCray at bmccray3@jhmi.edu to participate in the Johns Hopkins TRPV4 Hereditary Neuropathy Registry.
- To join the TRPV4 HN community on Facebook, search for “TRPV4 Related Hereditary Neuropathies (CMT2C, SPSMA & CDSMA)” and request to join, or email Stephanie at trpv4hngroup@gmail.com.
- Read Dr. McCray and Dr. Sumner’s May 2020 research publication.
- Create a profile and complete the natural history study in HNF’s GRIN Patient Registry.
Thank you, Stephanie, for your dedication to the CMT community. Your representation at HNF’s Externally-led Patient Focused Drug Development meeting on September 28, 2018 was outstanding.