Status:
COMPLETED
Myotubular Myopathy Event Study
Lead Sponsor:
Cure CMD
Collaborating Sponsors:
Congenital Muscle Disease International Registr
University of Michigan
Conditions:
X-linked Myotubular Myopathy
Eligibility:
MALE
Brief Summary
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential ...
Eligibility Criteria
Inclusion
- males with a confirmed MTM1 mutation OR
- males with a muscle biopsy consistent with myotubular myopathy AND family history consistent with X-linked inheritance AND
- English-speaking parent/guardian of a living male child or a decisionally impaired adult OR English-speaking affected male over 18 years of age who can access telephone
- signed study consent
- enrolled in the Congenital Muscle Disease International Registry (CMDIR)
Exclusion
- males with only a clinical diagnosis of XLMTM but without family history of XLMTM
- an affected male who has a genetically confirmed form of centronuclear myopathy (CNM) that is not caused by a mutation in the MTM1 gene
- females with MTM1 due to the limited number of females affected and the variability of clinical presentation
Key Trial Info
Start Date :
April 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 1 2015
Estimated Enrollment :
33 Patients enrolled
Trial Details
Trial ID
NCT01840657
Start Date
April 1 2013
End Date
October 1 2015
Last Update
March 7 2018
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
CMDIR
Torrance, California, United States, 90502