Condition: Craniometaphyseal Dysplasia · Sponsor: UConn Health
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.
This description comes directly from the study's public registry record.
Ernst J Reichenberger, PhD · 860-679-2062 · reichenberger@uchc.edu
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| University of Connecticut Health Center | Farmington, Connecticut, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT01630460