Genetic and Functional Analysis of Cherubism (CBM)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by University of Connecticut Health Center
Sponsor:
Information provided by (Responsible Party):
Ernst Reichenberger, University of Connecticut Health Center
ClinicalTrials.gov Identifier:
NCT01630447
First received: June 25, 2012
Last updated: August 27, 2013
Last verified: August 2013
  Purpose

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.


Condition
Cherubism

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Resource links provided by NLM:


Further study details as provided by University of Connecticut Health Center:

Primary Outcome Measures:
  • Identification of genetic elements [ Time Frame: at time of identification ] [ Designated as safety issue: No ]
    The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.


Biospecimen Retention:   Samples With DNA

Saliva, blood, bone tissue


Estimated Enrollment: 600
Study Start Date: April 2009
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
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
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with clinically diagnosed cherubism

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01630447

Contacts
Contact: Ernst J Reichenberger, PhD 860-679-2062 reichenberger@uchc.edu

Locations
United States, Connecticut
University of Connecticut Health Center Recruiting
Farmington, Connecticut, United States, 06030
Contact: Ernst J Reichenberger, PhD    860-679-2062    reichenberger@uchc.edu   
Sponsors and Collaborators
University of Connecticut Health Center
Investigators
Principal Investigator: Ernst J Reichenberger, PhD University of Connecticut Health Center
  More Information

Additional Information:
Publications:

Responsible Party: Ernst Reichenberger, Assoc. Prof., University of Connecticut Health Center
ClinicalTrials.gov Identifier: NCT01630447     History of Changes
Other Study ID Numbers: UCHC03-008CBM
Study First Received: June 25, 2012
Last Updated: August 27, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Connecticut Health Center:
cherubism
bone
autoinflammatory disorder
osteoblast
osteoclast
mandible
maxilla

Additional relevant MeSH terms:
Cherubism
Fibrous Dysplasia of Bone
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Jaw Diseases
Stomatognathic Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 29, 2014