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Study identifier: NCT01630460 Synced from ClinicalTrials.gov · July 29, 2026
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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Condition: Craniometaphyseal Dysplasia  ·  Sponsor: UConn Health

PhaseN/A
Planned participants600
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersNo

About this 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.

This description comes directly from the study's public registry record.

Talk to the study team

Ernst J Reichenberger, PhD  ·  860-679-2062  ·  reichenberger@uchc.edu

Always discuss trial participation with your own doctor first.

Locations (1)

University of Connecticut Health CenterFarmington, Connecticut, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT01630460