Myotubular & Centronuclear Myopathy Patient Registry v3
Research type
Research Database
IRAS ID
364804
Contact name
Chiara Marinin-Bettolo
Contact email
Duration of Study in the UK
years, months, days
Research summary
Myotubular and Centronuclear Myopathy Patient Registry V3
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
26/NE/0008
Date of REC Opinion
29 Jan 2026
REC opinion
Favourable Opinion
Data collection arrangements
Registry participation is via self registration by patients, families or carers and data is collected on living and deceased patients as well as female carriers (asymptomatic and symptomatic). Participants enter data via a secure web-based platform using a username and password and the platform is hosted on the Newcastle University servers. Data is only accessed by nominated registry individuals (namely registry curator and co-ordinator) and no personally identifiable data shared.
Data collection is via a series of questionnaires which cover for example motor function, demographic data, respiratory function, genetic reports and liver health. Participants are reminded to login to their records every six months to ensure information is kept up-to-date and the capture of longitudinal data to inform on natural history and disease progression.Research programme
The registry is an international research- focused database collecting patient and clinical information for those diagnosed with the rare neuromuscular condition Myotubular and Centronuclear Myopathy. Due to the rare incidence of the condition 1:100,000, the registry is international (patients from 55 countries) to gather as much data as possible to understand disease prevalence and to track disease progression and natural history. The questionnaires are available in ten languages to provide as broad accessibility to the patient community as possible. The registry supports the patient community by providing research updates, data reports and newsletters to patients highlighting key activities that have been undertaken. We are able to support research enquiries following approval by an independent steering group and provide identified aggregate data.
Research database title
Myotubular and Centronuclear Myopathy Patient Registry V3
Establishment organisation
Newcastle University
Establishment organisation address
Kingsgate
Newcastle upon Tyne
NE1 7RU