Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
| Status: | Recruiting |
|---|---|
| Conditions: | Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 11/9/2018 |
| Start Date: | April 2009 |
| End Date: | December 2025 |
| Contact: | Ernst J Reichenberger, PhD |
| Email: | reichenberger@uchc.edu |
| Phone: | 860-679-2062 |
Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
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.
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.
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.
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.
Inclusion Criteria:
- CMD; unaffected individuals only if part of a participating CMD family
Exclusion Criteria:
- No CMD; unaffected individuals only as part of a participating CMD family
We found this trial at
1
site
263 Farmington Ave
Farmington, Connecticut 06030
Farmington, Connecticut 06030
(860) 679-2000
Phone: 860-679-2062
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