Genetic and functional analysis of cherubism

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 research aims to identify the genetic causes and regulatory elements associated with cherubism, a rare bone disorder affecting the jaw. The study involves collecting blood and tissue samples from patients to understand the mechanisms behind the excessive bone resorption characteristic of this condition. Researchers will also document the disorder through photographs and medical documentation. The long-term goal is to find ways to slow down bone resorption in affected individuals.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* cherubism; unaffected individuals only if part of a participating cherubism family

Exclusion Criteria:

* no cherubism unaffected individuals only as part of a participating cherubism 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.