Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational

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.

Am I eligible for this trial?
Participation Requirements
Healthy Volunteers:

• CMD; unaffected individuals only if part of a participating CMD family

Where is this trial taking place?
United States
University of Connecticut Health Center
Who do I contact about this trial?
Ernst J Reichenberger, PhD
When is this trial taking place?
Start Date: April 2009
Estimated Completion Date: December 2025
How many participants will be in this trial?
Target number of participants: 600
Who are the authors of this trial?
Ernst J Reichenberger

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