Clinical Trial

Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Study acronym: CMD
Recruiting
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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.
Protocol Amendment History 13 amendments
This ClinicalTrials.gov record has been amended 13 times since 2012-06-27; most recent amendment 2026-04-14.
Trial Details
NCT Number NCT01630460
Lead Sponsor UConn Health
Conditions Craniometaphyseal Dysplasia
Enrollment 600 participants
Start Date 2009-04
Primary Completion 2030-12 (estimated)
Study Completion 2030-12 (estimated)
Updated on ClinicalTrials.gov 2026-04-17