Genetic and Functional Analysis of Cherubism

Recruiting

• Conditions: Cherubism

• Registration Number: NCT01630447
• Lead Sponsor: UConn Health

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.

Detailed Description

Cherubism is a very rare bone disorder where bone gets excessively resorbed only in the jaw bones (mandible and maxilla). The resulting cavities in bone fill up with soft fibrous (fibro-osseous) tissues that can expand and push the bony shells apart. Thus the characteristic facial appearance in patients with progressed cherubism. Bone resorption (cherubism lesions) in this disorder occurs always symmetrically in the mandible, the maxilla or in both. This distinguishes cherubism from similar disorders. As cherubism progresses, the lesions can invade the eye sockets (inferior and/or lateral orbital walls) and displace the eye balls and push down the eyelids. As a result the sclera (white of the eye) below the iris becomes visible and patients have an upward gazing appearance (cherubic look) which gave the name to this fibro-proliferative bone disorder.

Cherubism typically appears between ages of 2-7 years. It is often diagnosed during dental evaluations. At early stages cherubism is accompanied by lymph node swelling. Proliferation of the fibro-osseous tissue typically stops after puberty and in many the soft tissue in the cherubic bone cavities are replaced by new bone.

For this study we will:

* Send out study participation kits and consent by phone

* Collect a saliva sample from eligible individuals

* Obtain information regarding cherubism

* Document disorder with photos and doctor's letters

* If patients undergo surgery for cherubism we ask to obtain some bone tissue that would otherwise be discarded

* Isolate DNA from the saliva sample

* Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations

* Study in the laboratory why the genetic variations cause the disorder

Study Timeline

• Study Start: 2009-04
• Study First Submitted: 2012-06-25
• Study First Submitted QC: 2012-06-27
• Study First Posted: 2012-06-28
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-06
• Last Update Posted: 2024-12-11
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of genetic elements	at time of identification	The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

Trial Locations

Locations (1)

University of Connecticut Health Center; 🇺🇸 Farmington, Connecticut, United States