Status:
COMPLETED
Myotubular Myopathy Genetic Testing Study
Lead Sponsor:
Cure CMD
Collaborating Sponsors:
Valerion Therapeutics, LLC
Congenital Muscle Disease International Registr
Conditions:
Myotubular Myopathy
Eligibility:
All Genders
30+ years
Brief Summary
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full...
Detailed Description
* Prospective participants will complete registration in the CMDIR. * The CMDIR genetic curator will review CMDIR data for study eligibility. * If eligible, participant will be called and consented to...
Eligibility Criteria
Inclusion
- Patient eligibility will be determined by the CMDIR genetic curator using the following prioritization protocol.
- Males and females in the US and Canada who have a known mutation in the MTM1 gene identified in a research lab and never confirmed in a clinical CLIA (Clinical Laboratory Improvement Amendments) -certified laboratory.
- Male and female patients in the US and Canada who meet 2 of 3 of the following criteria: + clinical history, + family history, + centronucleation on muscle biopsy (no signs of nemaline rods or cores). Clinical history includes: post-natal breathing support (not necessarily continued after first month), length above 90% for EGA (estimated gestational age), facial characteristics (narrow facies), facial weakness (ophthalmoplegia, excessive saliva with need for suctioning).
- Males and females in the US and Canada who present with XLMTM symptoms and no genetic mutation in the MTM1 gene found with conventional sequencing, requiring CGH array deletion/duplication testing.
- Age range: One month - no maximum age.
- Individual is registered with the CMDIR.
- Written study consent provided by parent/caregiver (affected individual's age less than 18 years or for those individuals greater than 18 years with learning disabilities or inability to physically access consent) or affected individual (age greater than 18 years)
Exclusion
- 1\. Carrier testing for asymptomatic mothers.
Key Trial Info
Start Date :
March 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 1 2017
Estimated Enrollment :
23 Patients enrolled
Trial Details
Trial ID
NCT01817946
Start Date
March 1 2013
End Date
March 1 2017
Last Update
March 7 2018
Active Locations (1)
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1
Congenital Muscle Disease International Registry
Torrance, California, United States, 90502