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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Who can join

All ages · All sexes

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

About the study

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.

Sponsor: UConn Health · Participants: 600 · Started: 2009-04

Contact the study team

• Ernst J Reichenberger, PhD · Phone: 860-679-2062

Official record on ClinicalTrials.gov — NCT01630460

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.