Genetic and Functional Analysis of Cherubism

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Conditions studied: Cherubism

In brief

The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.

Key facts

Study ID

NCT01630447

Run by

UConn Health

People needed

600

Starts

2009-04-01

Expected to finish

2030-12-01

Last updated by the study team

2026-04-15

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• no cherubism unaffected individuals only as part of a participating cherubism family

Where it is running

• University of Connecticut Health Center — Farmington, Connecticut, United States (enrolling)

Full record on ClinicalTrials.gov

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