Natural History of Cherubism Observational Study

NCT ID: NCT01916772

Last Updated: 2017-01-10

Study Results

Results pending

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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Recruitment Status

COMPLETED

Total Enrollment

33 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-31

Study Completion Date

2016-09-30

Brief Summary

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To observe the natural history of cherubism.

Detailed Description

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The investigators will take a history and examine patients with cherubism to determine the natural history of the disease. The investigators also may take skin or blood samples (IRB approved 7256) from patients to learn more about this disorder.

Conditions

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Cherubism

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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cherubism patients

no interventions

no interventions

Intervention Type OTHER

no interventions

Interventions

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no interventions

no interventions

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

patients with cherubism

Exclusion Criteria

patients without cherubism
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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The Cleveland Clinic

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

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

Site Status

Countries

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United States

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.

Reference Type BACKGROUND
PMID: 16786512 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 22820184 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 22640988 (View on PubMed)

Other Identifiers

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CCFO7256

Identifier Type: -

Identifier Source: org_study_id

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