Natural History of Cherubism Observational Study

Cherubism Clinical Trial

Official title:

Natural Hisotry of Cherubism Observational Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01916772
• Other study ID #: CCFO7256
• Status: Completed
• Phase: N/A
• First received: July 25, 2013
• Last updated: January 6, 2017
• Start date: July 2013
• Est. completion date: September 2016

Study information

• Verified date: January 2017
• Source: The Cleveland Clinic
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial Summary

To observe the natural history of cherubism.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 33
• Est. completion date: September 2016
• Est. primary completion date: September 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

patients with cherubism

Exclusion Criteria:

patients without cherubism

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Cherubism

Intervention

Other:
• no interventions
no interventions

Locations

Country	Name	City	State
United States	Cleveland Clinic	Cleveland	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
The Cleveland Clinic

Country where clinical trial is conducted

United States, 

References & Publications (3)

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. — View Citation

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. — View Citation

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:S5. doi: 10.1186/1750-1172-7-S1-S5. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease progression	We will take a history and examine patients with cherubism and look for disease progression.	10 years	No
Secondary	patient growth	We will measure height and weight	10 years	No
Secondary	bone abnormalities	We will take panorex radiographs.	10 years	No