Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• CMD; unaffected individuals only if part of a participating CMD family
Locations
United States
Connecticut
University of Connecticut Health Center
RECRUITING
Farmington
Contact Information
Primary
Ernst J Reichenberger, PhD
reichenberger@uchc.edu
860-679-2062
Time Frame
Start Date: 2009-04
Estimated Completion Date: 2025-12
Participants
Target number of participants: 600
Related Therapeutic Areas
Sponsors
Leads: UConn Health