Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Recruiting now

Conditions studied: Craniometaphyseal Dysplasia

In brief

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 facts

Study ID

NCT01630460

Run by

UConn Health

People needed

600

Starts

2009-04-01

Expected to finish

2030-12-01

Last updated by the study team

2026-04-17

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

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

Where it is running

• University of Connecticut Health Center — Farmington, Connecticut, United States (enrolling)

Full record on ClinicalTrials.gov

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