Actively Recruiting
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Led by UConn Health · Updated on 2026-04-17
600
Participants Needed
1
Research Sites
1130 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Craniometaphyseal Dysplasia (CMD)
- Unaffected individuals only if they are part of a participating CMD family
You will not qualify if you...
- No diagnosis of CMD
- Unaffected individuals only allowed if they are part of a participating CMD family
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
University of Connecticut Health Center
Farmington, Connecticut, United States, 06030
Actively Recruiting
Research Team
E
Ernst J Reichenberger, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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