Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Recruiting
Observational Study
Craniometaphyseal Dysplasia
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 600 (estimated)
- Sponsor
- UConn Health · Other
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About This Trial
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 m…
Trial Locations
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Eligibility Criteria
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
Contacts