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Search / Trial NCT01840657

Myotubular Myopathy Event Study

Launched by CURE CMD · Apr 23, 2013

Trial Information

Current as of June 01, 2025

Completed

Keywords

Cmdir (Congenital Muscle Disease International Registry) X Linked Myotubular Myopathy Centronuclear Myopathy Myotubularin Mtm1 Gene Mutation Survival Adverse Event Disease Complication Hospital Admission Emergency Room Visit Motor Function Respiratory Function Natural History Study

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.

Locations

Torrance, California, United States

Patients applied

0 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

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