Medical professionals are looking towards patient-reported outcomes more and more as a source for research. In fact, a study titled “Patient reported impact of Charcot-Marie-Tooth disease: protocol for a real world digital lifestyle study” relies completely on data provided by patients. According to Charcot-Marie-Tooth News, this study intends to discover burdens and unmet needs within the CMT patient population.
About Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy, is a neurological disorder that affects the peripheral nervous system. It occurs as the result of mutations in various genes (CMT1, CMT2, CMT3), all of which result in the death of peripheral nerves. Depending on which gene is affected, this condition can be inherited in an autosomal dominant or recessive pattern. There is also an X-linked version of the disease, which is passed down through mutations of the GJB1 gene. Regardless of inheritance, affected individuals may experience foot deformities, difficulty with walking and fine motor skills, weakness in the hands and feet, and lower leg deformities. There is currently no cure for this disease, although physical and occupational therapy are used to maintain muscle strength and use. Pain medications may also be prescribed.
About the Study
Using an app called CMT&Me, researchers set out to better comprehend the unmet needs that CMT patients currently face. Receiving data directly from affected individuals allows medical professionals to understand the real-world problems that they face. As CMT is a rare disease and recruiting patients for clinical trials can be very difficult, this app also allows for an easier collection of data.
Over the course of two years, 2,000 CMT patients from across the globe will be repeatedly asked how CMT affects their lives. They will complete a number of questionnaires in order to assess quality of life, and they will be asked to repeat them either every month or every quarter. The app is also helpful in that researchers can reach out directly to patients.
Enrollment is still open, and if you are interested you can find out more here.