Molecular and Genetic Studies of Congenital Myopathies

StatusRecruiting
PhaseNot specified
Started

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Record History

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  1. Site contact updatedv21
  2. 4 versions Re-verified since Sep 7, 2021, no change to tracked fieldsv17-v20
  3. Secondary endpoints: details revised at 1 of 1 entry
    • Site contact updated
    v16
  4. 3 versions Re-verified since Dec 8, 2016, no change to tracked fieldsv13-v15
  5. Site contact updatedv12
Show 10 earlier versionsHide 10 earlier versions
  1. Enrollment target: 2000 to 4000
    • Primary completion date: Jan 2050
    v11
  2. Study site revisedv10
  3. Study description expanded, about 9 words
    • Publications: 10 to 18
    v9
  4. Eligibility criteria expanded, about 13 wordsv8
  5. Site contact updatedv7
  6. Re-verified, no change to tracked fieldsv6
  7. Enrollment target: 1000 to 2000
    • Study completion date: Jan 2050
    • Site contact updated
    • Study description expanded, about 2 words
    v5
  8. Re-verified, no change to tracked fieldsv4
  9. Study Status, Study Description, Eligibilityv3
  10. Site contact updatedv2
  1. Study First Submitted
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs
Trial Details
NCT Number NCT00272883
Lead Sponsor Boston Children's Hospital
Collaborators: Muscular Dystrophy Association
Conditions
(from sponsor)		 Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy
Related terms Minicore Myopathy with External Ophthalmoplegia, Myopathies, Nemaline, Myopathies, Structural, Congenital, Myopathy, Central Core, Myotonia Congenita
Enrollment 4,000 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov