Genetic and Functional Analysis of Cherubism (CBM)
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ClinicalTrials.gov Identifier: NCT01630447 |
Recruitment Status :
Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
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Condition or disease |
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Cherubism |
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
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 |

- 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

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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 |
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

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 ClinicalTrials.gov identifier (NCT number): NCT01630447
Contact: Ernst J Reichenberger, PhD | 860-679-2062 | reichenberger@uchc.edu |
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 |
Principal Investigator: | Ernst J Reichenberger, PhD | UConn Health |
Publications of Results:
Other Publications:
Responsible Party: | Ernst Reichenberger, Assoc. Prof., UConn Health |
ClinicalTrials.gov 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 |
cherubism bone autoinflammatory disorder osteoblast |
osteoclast mandible maxilla |
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 |