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Molecular and Genetic Studies of Congenital Myopathies

StatusRecruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

  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 updatedv16 Show 1 more changeShow less
    • Site contact updated
  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 2050v11 Show 1 more changeShow less
    • Primary completion date: Jan 2050
  2. Study site revisedv10 See this version in full on ClinicalTrials.gov ↗
  3. Study description expanded, about 9 words Publications: 10 to 18v9 Show 1 more changeShow less
    • Publications: 10 to 18

    See this version in full on ClinicalTrials.gov ↗

  4. Eligibility criteria expanded, about 13 wordsv8 See this version in full on ClinicalTrials.gov ↗
  5. Site contact updatedv7
  6. Re-verified, no change to tracked fieldsv6
  7. Enrollment target: 1000 to 2000 Completion date: Jan 2050 · Site contact updated · Study description expanded, about 2 wordsv5 Show 3 more changesShow less
    • Completion date: Jan 2050
    • Site contact updated
    • Study description expanded, about 2 words

    See this version in full on ClinicalTrials.gov ↗

  8. Re-verified, no change to tracked fieldsv4
  9. Study Status, Study Description, Eligibilityv3
  10. Site contact updatedv2
  1. Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • 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 Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy
Enrollment 4,000 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov