Clinical trial · Observational
Natural History of Cherubism Observational Study
Natural Hisotry of Cherubism Observational Study
NCT01916772CI-TRIAL-00025429completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
To observe the natural history of cherubism.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cherubism | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| no interventions | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- cherubism patients
- description
- no interventions
- interventionNames
- Other: no interventions
Primary outcomes (1)
- measure
- Disease progression
- timeFrame
- 10 years
- description
- We will take a history and examine patients with cherubism and look for disease progression.
Secondary outcomes (2)
- measure
- patient growth
- timeFrame
- 10 years
- description
- We will measure height and weight
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: patients with cherubism Exclusion Criteria: patients without cherubism
References
Publications (3)
- BACKGROUNDLietman SA, Kalinchinko N, Deng X, Kohanski R, Levine MA. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat. 2006 Jul;27(7):717-8. doi: 10.1002/humu.9433. PMID 16786512
- BACKGROUNDFan C, Gaivin RJ, Marth TA, Willard B, Levine MA, Lietman SA. Cloning and characterization of the human SH3BP2 promoter. Biochem Biophys Res Commun. 2012 Aug 17;425(1):25-32. doi: 10.1016/j.bbrc.2012.07.043. Epub 2012 Jul 17. PMID 22820184
- BACKGROUNDReichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA. The role of SH3BP2 in the pathophysiology of cherubism. Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S5. doi: 10.1186/1750-1172-7-S1-S5. Epub 2012 May 24. PMID 22640988