Recruiting

Observational Study

Sponsor:

UConn Health

Code:

NCT01630447

Conditions

Cherubism

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Cherubism

Study ID

NCT01630447

Start date

Apr, 2009

Status verified date

Apr, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Identification of genetic elements [ Time Frame: at time of identification ]

Central Contacts and Locations

Central contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

Locations

University of Connecticut Health Center

Recruiting

Farmington, Connecticut, United States, 06030

Contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

More Information

Sponsor

UConn Health

Last update posted

Apr 15, 2026

Last verified

Apr, 2026

Keywords

  • cherubism
  • bone
  • autoinflammatory disorder
  • osteoblast
  • osteoclast
  • mandible
  • maxilla

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by UConn Health on 2026-04-15.