Registry for patients with myotubular and centronuclear myopathy
Myotubular and Centronuclear Myopathy Patient Registry
This study is creating a registry to gather information from people with myotubular and centronuclear myopathy to help find participants for clinical trials and improve care for these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Newcastle-upon-Tyne Hospitals NHS Trust Academic / other |
| Locations | 1 site (Newcastle upon Tyne, Tyne and Wear) |
| Trial ID | NCT04064307 on ClinicalTrials.gov |
What this trial studies
The Myotubular and Centronuclear Myopathy Patient Registry is an international database designed to collect patient-reported data specific to myotubular and centronuclear myopathies. Managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University, this registry aims to identify patients for clinical trials, support research, and provide healthcare professionals with updated management information. Participants must consent and provide clinical data, including genetic or biopsy reports, to contribute to the registry. The initiative is supported by various organizations, including the Myotubular Trust and Muscular Dystrophy UK.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with myotubular or centronuclear myopathy confirmed by genetic testing or muscle biopsy, as well as carrier females of x-linked myotubular myopathy.
Not a fit: Patients without a confirmed diagnosis of myotubular or centronuclear myopathy will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could enhance the understanding and treatment options for patients with myotubular and centronuclear myopathy.
How similar studies have performed: Other patient registries for rare diseases have shown success in facilitating research and improving patient outcomes, indicating a positive precedent for this approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Newcastle upon Tyne, Tyne and Wear
- Newcastle University — Newcastle upon Tyne, Tyne and Wear, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Chiara Marini Bettolo — Newcastle-upon-Tyne Hospitals NHS Trust
- Study coordinator: Julie Bohill
- Email: julie.bohill@newcastle.ac.uk
- Phone: 0044 191 241 8640
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.