Myotubular and Centronuclear Myopathy Patient Registry
1 other identifier
observational
500
1 country
1
Brief Summary
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2013
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 26, 2013
CompletedFirst Submitted
Initial submission to the registry
March 6, 2018
CompletedFirst Posted
Study publicly available on registry
August 21, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
May 1, 2025
CompletedApril 9, 2025
April 1, 2025
12.1 years
March 6, 2018
April 7, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Patient questionnaire
Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. No scales are collected. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.
12 months
Eligibility Criteria
Eligible participants from any country. Registration is voluntary, and initiated by participants.
You may qualify if:
- 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.
You may not qualify if:
- \- None
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Newcastle-upon-Tyne Hospitals NHS Trustlead
- Myotubular Trustcollaborator
- Muscular Dystrophy UKcollaborator
- Astellas Gene Therapiescollaborator
- Astellas Pharma Inccollaborator
Study Sites (1)
Newcastle University
Newcastle upon Tyne, Tyne and Wear, NE1 3BZ, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Chiara Marini Bettolo
Newcastle-upon-Tyne Hospitals NHS Trust
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Target Duration
- 1 Year
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor Neurologist and Clinical Lead, John Walton Muscular Dystrophy Research Centre. Clinical Lead of the Highly Specialised Service for Rare Neuromuscular Diseases, and Honorary Clinical Research Associate at Newcastle University
Study Record Dates
First Submitted
March 6, 2018
First Posted
August 21, 2019
Study Start
March 26, 2013
Primary Completion
May 1, 2025
Study Completion
May 1, 2025
Last Updated
April 9, 2025
Record last verified: 2025-04