Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
UConn Health
600 participants
Apr 1, 2009
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria1
- CMD; unaffected individuals only if part of a participating CMD family
Exclusion Criteria1
- No CMD; unaffected individuals only as part of a participating CMD family
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT01630460