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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
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.
Conditions:
🦠 Craniometaphyseal Dysplasia
🗓️ Study Start (Actual) April 2009
🗓️ Primary Completion (Estimated) December 2025
✅ Study Completion (Estimated) December 2025
👥 Enrollment (Estimated) 600
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 Farmington, Connecticut, United States

📋 Eligibility Criteria

Description

    Inclusion Criteria:

    • * CMD; unaffected individuals only if part of a participating CMD family

    Exclusion Criteria:

    • * No CMD; unaffected individuals only as part of a participating CMD family
Ages Eligible for Study: N/A to N/A (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 25 June 2012
  • First Submitted that Met QC Criteria 27 June 2012
  • First Posted 28 June 2012

Study Record Updates

  • Last Update Submitted that Met QC Criteria 19 September 2023
  • Last Update Posted 21 September 2023
  • Last Verified September 2023
I'm interested ...!!