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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Recruitingn/aAges any - anyAllUConn Health
NCT01630460 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
University of Connecticut Health Center
Farmington, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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