Trial Information
Current as of June 24, 2025
Completed
Keywords
ClinConnect Summary
No description provided
Gender
MALE
Eligibility criteria
- Inclusion Criteria:
- • 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 Criteria:
- • 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
About Cure Cmd
Cure CMD is a nonprofit organization dedicated to advancing research and developing innovative therapies for congenital muscular dystrophies (CMD). Through collaborative partnerships with academic institutions, industry leaders, and patient advocacy groups, Cure CMD focuses on accelerating the discovery of effective treatments and improving the quality of life for individuals affected by CMD. Their commitment to scientific rigor and patient-centered approaches drives a multifaceted agenda that includes funding research initiatives, fostering clinical trials, and enhancing awareness of this rare group of muscular disorders.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Torrance, California, United States
Patients applied
Trial Officials
Joseph Hornyak, MD, PhD
Principal Investigator
University of Michigan
Anne Rutkowski, MD
Principal Investigator
Cure CMD
James Dowling, MD, PhD
Principal Investigator
University of Michigan
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
Similar Trials