Identification of Genetic Mutations and Molecular Mechanisms in Craniometaphyseal Dysplasia Families and Cases

What this Trial Is About

Craniometaphyseal Dysplasia (CMD) is a rare bone disorder primarily affecting the bones of the head and long bones, characterized by progressive bone growth in the face and head and widening of the ends of long bones. This research aims to identify genetic changes and regulatory elements that cause CMD, study blood and tissue samples from patients, and understand the biological processes behind the disorder. The long-term goal is to find ways to slow down abnormal bone growth in people with CMD. The study does not involve treatments but focuses on observing participants with CMD and their family members to gather genetic and molecular information. Blood and tissue samples are collected to analyze genetic mutations and cellular mechanisms related to CMD. The study includes affected individuals and unaffected family members to help distinguish CMD from related bone disorders. Participants will provide samples and undergo evaluations to help identify genetic causes of CMD. Researchers will analyze these samples to understand how CMD develops and progresses. The primary outcome measure is the identification of genetic elements responsible for CMD. Participation involves ongoing observation without treatment, and the study began in 2009 with plans extending through 2030.

Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)