Actively Recruiting
Myotubular and Centronuclear Myopathy Patient Registry
Led by Newcastle-upon-Tyne Hospitals NHS Trust · Updated on 2025-04-09
500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
Newcastle-upon-Tyne Hospitals NHS Trust
Lead Sponsor
M
Myotubular Trust
Collaborating Sponsor
AI-Summary
What this Trial Is About
The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is an international database focused on collecting patient-reported information related to these rare neuromuscular conditions. The registry is managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University in partnership with the Myotubular Trust and is part of the TREAT-NMD Neuromuscular Network. It aims to assist research, support clinical trials, and help healthcare professionals improve care for affected patients. Participants register online and provide consent to complete a detailed questionnaire. Clinical information, genetic testing results, and biopsy reports are shared by both participants and their doctors. The registry welcomes patients with confirmed diagnoses of MTM or CNM, carrier females with symptoms, and patients who are deceased but had confirmed diagnoses. This initiative is supported by multiple organizations and hosted on a secure online platform. During participation, individuals complete questionnaires at 12-month intervals to update their health and diagnosis status. Researchers use this data to identify candidates for clinical trials and to further understand these conditions. The registry facilitates ongoing communication between patients, researchers, and healthcare providers, aiming to enhance treatment standards and advance knowledge about myotubular and centronuclear myopathy.
CONDITIONS
Brief Title
Myotubular and Centronuclear Myopathy Patient Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with a myotubular myopathy or centronuclear myopathy diagnosis confirmed by genetic testing or muscle biopsy
- Female carriers of X-linked myotubular myopathy, especially if they show symptoms
- Patients who are deceased but had a confirmed diagnosis
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (online)
Duration - 12 months
Participants complete a questionnaire and provide clinical and genetic or biopsy data online to support research and patient care.
Online questionnaire completed at baseline and follow-up
Trial Site Locations
Total: 1 location
1
Newcastle University
Newcastle upon Tyne, Tyne and Wear, United Kingdom, NE1 3BZ
Actively Recruiting
Research Team
J
Julie Bohill
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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