Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

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

Locations
United States
Connecticut
University of Connecticut Health Center
Recruiting
Farmington
Contact Information
Primary
Ernst J Reichenberger, PhD
reichenberger@uchc.edu
860-679-2062
Time Frame
Start Date: April 2009
Estimated Completion Date: December 2025
Participants
Target number of participants: 600
Authors
Ernst J Reichenberger
Sponsors
Leads: UConn Health

This content was sourced from clinicaltrials.gov