According to a story from Charcot-Marie-Tooth News, a recent meeting between the US Food and Drug Administration (FDA) and patient advocacy groups took place to discuss the future development of therapies for Charcot-Marie-Tooth disease. The meeting was hosted by the Hereditary Neuropathy Foundation. This meeting is one of several meetings that the agency has held that have focused on a rare or orphan disease, and they allow patients to discuss the unique challenges that come with living with their illness.
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a duplication of a certain region of chromosome 17 that affects the PMP22 gene. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.
Working Together For Better Treatment
These meetings are an good example of collaboration between the FDA and patient advocacy groups, and feedback from patients is essential for informing the agency what the most significant unmet needs are for a patient population. Through the course of the meeting, patient and their families were placing a major emphasis on the degree of debilitation that Charcot-Marie-Tooth disease patients face, which has often gone unacknowledged by the broader medical community.
Impactful Stories
Perhaps one gripping highlight of the meeting which laid bare the difficulties faced by Charcot-Marie-Tooth disease patients was a documentary that was featured during the event called “A Day in the Life of CMT.” This documentary featured the Warren family. Both the father Phillip and his son Reagan have the disorder, and Brooke, wife to Phillip and mother to Reagan, has to do a lot to take care of them both. Stories like these really help bring in to focus the challenges of debilitating disorders.
