Actively Recruiting

All Genders
NCT01630447

Genetic and Functional Analysis of Cherubism

Led by UConn Health · Updated on 2026-04-15

600

Participants Needed

1

Research Sites

1130 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

Genetic and Functional Analysis of Cherubism

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Cherubism patients
  • Unaffected individuals only if they are part of a family with cherubism
Not Eligible

You will not qualify if you...

  • Individuals without cherubism who are not part of a cherubism family

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

University of Connecticut Health Center

Farmington, Connecticut, United States, 06030

Actively Recruiting

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Research Team

E

Ernst J Reichenberger, PhD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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