Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Last updated: December 6, 2024
Sponsor: UConn Health
Overall Status: Active - Recruiting

Phase

N/A

Condition

Williams Syndrome

Treatment

N/A

Clinical Study ID

NCT01630460
UCHC03-008CMD
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

  • No CMD; unaffected individuals only as part of a participating CMD family

Study Design

Total Participants: 600
Study Start date:
April 01, 2009
Estimated Completion Date:
December 31, 2025

Study Description

CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics.

Connect with a study center

  • University of Connecticut Health Center

    Farmington, Connecticut 06030
    United States

    Active - Recruiting

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