Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Part of paid clinical trials in Farmington, Connecticut.

Sponsor
UConn Health
Study ID
NCT01630460
Status
Recruiting
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Conditions

  • Craniometaphyseal Dysplasia

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Apr 30, 2009
Status verified
Apr 2026
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
600 participants (estimated)

Primary Outcome Measure

Identification of genetic elements [ Time Frame: at time of identification ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Connecticut Health CenterFarmingtonConnecticut06030
Ernst J Reichenberger, PhD
[email protected]
860-679-2062

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University of Connecticut Health Center· Farmington, CT