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Genetic and Functional Analysis of Cherubism
Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Who can join
All ages · All sexes
Full eligibility criteria
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
About the study
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.
Sponsor: UConn Health · Participants: 600 · Started: 2009-04
Contact the study team
- Ernst J Reichenberger, PhD · Phone: 860-679-2062
Official record on ClinicalTrials.gov — NCT01630447
Locations in the U.S.
| Connecticut | University of Connecticut Health Center, Farmington |
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.