Natural History Study for Charcot Marie Tooth Disease

Launched by HEREDITARY NEUROPATHY FOUNDATION · Jun 12, 2023

Keywords

ClinConnect Summary

This clinical trial, called the Natural History Study for Charcot-Marie-Tooth Disease (CMT), aims to gather valuable information about this condition by collecting data from patients. Researchers want to learn more about how CMT affects people, the challenges they face in getting a diagnosis, and how common the disease is. By analyzing surveys filled out by participants alongside their genetic and health records, scientists hope to better understand CMT and ultimately work towards finding a cure.

If you or a loved one has CMT or is suspected to have it, you may be eligible to participate in this study, regardless of age. Participants need to provide informed consent, which means they agree to join the study after understanding what it involves. You can expect to complete a survey that asks about your experiences with the disease. This information will help researchers gain insights into CMT and improve future treatments. It’s important to note that individuals without CMT or other inherited neuropathies cannot join this study.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients will be made aware of the study by HNF and others (referenced above) and invited to participate. Once patients have reviewed and signed electronically the informed consent document, it is attached to their file.
• • All affected individuals with CMT/IN are eligible to participate in GRIN with proper informed consent.
• • Children, adolescents and adults with either a confirmed diagnosis or suspected to have CMT/IN are eligible with parent and/or guardian consent.
• • Individuals that have been clinically diagnosed through family history and/or standard clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have CMT/IN (note: many mutations have not been identified yet) are eligible.
• Exclusion Criteria:
• • People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies