Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
33 participants
OBSERVATIONAL
2013-07-31
2016-09-30
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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cherubism patients
no interventions
no interventions
no interventions
Interventions
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no interventions
no interventions
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
Yes
Sponsors
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The Cleveland Clinic
OTHER
Responsible Party
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Principal Investigators
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Steven Lietman
Role: PRINCIPAL_INVESTIGATOR
The Cleveland Clinic
Locations
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Cleveland Clinic
Cleveland, Ohio, United States
Countries
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References
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Lietman 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.
Fan 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.
Reichenberger 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.
Other Identifiers
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CCFO7256
Identifier Type: -
Identifier Source: org_study_id
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