Genetic analysis of Craniometaphyseal Dysplasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to identify the genetic causes of Craniometaphyseal Dysplasia (CMD), a rare bone disorder characterized by excessive bone deposition in the cranial and long bones. Researchers will analyze blood and tissue samples from affected patients to understand the underlying mechanisms of the disorder. The long-term goal is to discover ways to slow down the abnormal bone growth associated with CMD. The study will include both affected individuals and unaffected family members for comparison.

Why it matters

Who can join: the full rules

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

Where it's running

• University of Connecticut Health Center
  Farmington, Connecticut, United States Recruiting

Study contacts

• Principal investigator: Ernst J Reichenberger, PhD — UConn Health
• Study coordinator: Ernst J Reichenberger, PhD
• Email: reichenberger@uchc.edu
• Phone: 860-679-2062

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.