Myotubular and Centronuclear Myopathy Patient Registry

Launched by NEWCASTLE-UPON-TYNE HOSPITALS NHS TRUST · Aug 19, 2019

Keywords

ClinConnect Summary

The Myotubular and Centronuclear Myopathy Patient Registry is a global project designed to gather information from patients with specific muscle disorders, including myotubular myopathy and centronuclear myopathy. This registry helps researchers understand these conditions better by collecting data directly from patients and their families. It is open to anyone diagnosed with these conditions, confirmed through genetic testing or muscle biopsy, as well as women who carry the gene for x-linked myotubular myopathy and show symptoms. Even patients who have passed away but had a confirmed diagnosis are welcome to be included.

If you decide to participate, you can expect to share your experiences and information related to your condition through a secure online platform. The registry aims to improve knowledge about these rare muscle disorders, which could lead to better treatments in the future. There's no limit on who can join based on age or gender, and the registration process is straightforward. For more details or to sign up, you can visit their website at www.mtmcnmregistry.org.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
• • Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
• • Any patient who is deceased, but who had a confirmed diagnosis.
• Exclusion Criteria:
• • - None