Patient input is extremely important when evaluating treatments for rare diseases; Charcot-Marie-Tooth disease (CMT) is no exception. In order to understand the impact of different CMT therapies, researchers from the University of Canberra have created a survey for CMT patients or their caregivers.

About 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 Survey

This online survey was created for CMT patients who experience issues with mobility and/or dexterity, as well as their caregivers. It asks a range of questions that intend to evaluate the impact of various medications, so that medical professionals are better equipped to prescribe and even create treatments. As there are no therapies that are approved specifically for CMT, this data is very important.

The research team has previously conducted focus groups and one-on-one interviews to evaluate the effect that treatments have on CMT patients, finding that many affected individuals have trouble finding safety information and experience adverse effects. The survey is meant to expand upon what they learned.

If you are interested in taking the survey, it will take about 15-20 minutes. Be prepared to answer questions about which medications you take, your dosage, how long you’ve been receiving treatments, and more. All of your data will be confidential; only the team of researchers will have access to the data.

To learn more about the survey, click here.