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
Think this trial could be right for you?
Answer three quick questions written from this study's own rules to see if you may qualify. No account needed to find out.
Check Your Eligibility
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
Loading…
Loading trial locations…
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