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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Study acronym: CMD
StatusRecruiting
PhaseNot specified
Started
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Record History

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  1. Primary and study completion dates: Dec 2025 to Dec 2030v14
  2. 2 versions Re-verified since Sep 19, 2023, no change to tracked fieldsv12-v13
  3. Publications: 10 to 11v11
  4. 2 versions Re-verified since Nov 26, 2019, no change to tracked fieldsv9-v10
  5. Publications: 6 to 10v8
Show 6 earlier versionsHide 6 earlier versions
  1. 4 versions Re-verified since Dec 1, 2014, no change to tracked fieldsv4-v7
  2. Publications: 5 to 6v3
  3. Study Status, Outcome Measuresv2
  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  • Stopped: an ongoing trial was terminated, suspended or withdrawn.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.
UConn Health
38 trials monitored
See 2 trials at risk
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find mechanisms to slow down bone deposition in CMD patients.
Trial Details
NCT Number NCT01630460
Lead Sponsor UConn Health
Conditions
(from sponsor)		 Craniometaphyseal Dysplasia
Related terms Hyperostosis, Schwartz-Lelek syndrome
Enrollment 600 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov