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
UConn Health · NCT01630447
This study is trying to find out what causes cherubism, a rare jaw bone disorder, by looking at blood and tissue samples from patients to help slow down the bone loss that comes with it.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | UConn Health (other) |
| Locations | 1 site (Farmington, Connecticut) |
| Trial ID | NCT01630447 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with cherubism and their unaffected family members.
Not a fit: Patients without cherubism or those not related to a participating cherubism family may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of cherubism, potentially slowing disease progression.
How similar studies have performed: While cherubism is a rare condition, similar genetic studies have shown promise in understanding other bone disorders, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Farmington, Connecticut
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Cherubism, cherubism, bone, autoinflammatory disorder, osteoblast, osteoclast, mandible, maxilla