Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
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.
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms|
- Identification of genetic elements [ Time Frame: at time of identification ] [ Designated as safety issue: No ]The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Biospecimen Retention: Samples With DNA
Saliva, blood, bone tissue
|Study Start Date:||April 2009|
|Estimated Study Completion Date:||December 2025|
|Estimated Primary Completion Date:||December 2025 (Final data collection date for primary outcome measure)|
CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics.
|Contact: Ernst J Reichenberger, PhDemail@example.com|
|United States, Connecticut|
|University of Connecticut Health Center||Recruiting|
|Farmington, Connecticut, United States, 06030|
|Contact: Ernst J Reichenberger, PhD 860-679-2062 firstname.lastname@example.org|
|Principal Investigator:||Ernst J Reichenberger, PhD||University of Connecticut Health Center|