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Genetic and Functional Analysis of Cherubism (CBM)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01630447
Recruitment Status : Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
Information provided by (Responsible Party):
Ernst Reichenberger, 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.

Condition or disease

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

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Study Start Date : April 2009
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Primary Outcome Measures :
  1. Identification of genetic elements [ Time Frame: 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.

Biospecimen Retention:   Samples With DNA
Saliva, blood, bone tissue

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with clinically diagnosed cherubism

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01630447

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Contact: Ernst J Reichenberger, PhD 860-679-2062

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United States, Connecticut
University of Connecticut Health Center Recruiting
Farmington, Connecticut, United States, 06030
Contact: Ernst J Reichenberger, PhD    860-679-2062   
Sponsors and Collaborators
UConn Health
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Principal Investigator: Ernst J Reichenberger, PhD UConn Health
Additional Information:
Publications of Results:

Other Publications:
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Responsible Party: Ernst Reichenberger, Assoc. Prof., UConn Health Identifier: NCT01630447    
Other Study ID Numbers: UCHC03-008CBM
First Posted: June 28, 2012    Key Record Dates
Last Update Posted: December 14, 2020
Last Verified: December 2020
Keywords provided by Ernst Reichenberger, UConn Health:
autoinflammatory disorder
Additional relevant MeSH terms:
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Fibrous Dysplasia of Bone
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Jaw Diseases
Stomatognathic Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn