CClinicalTrials.gg
CompletedNCT01916772Updated Jan 10, 2017

Natural History of Cherubism Observational Study

An observational study in Cherubism, sponsored by The Cleveland Clinic. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2017-01-10.

Sponsored by The Cleveland Clinic · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
33
Sex
All
01

Study summary

To observe the natural history of cherubism.

Read the detailed 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.

02

Conditions studied

  • Cherubism

Keywords

  • cherubism
  • bone tumors
03

In context

Lead sponsor

The Cleveland Clinic is the lead sponsor of 818 studies on the registry; 118 are open to participants now.

Of its 89 completed or terminated interventional studies of FDA-regulated products, 72 (81%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

We will see patients with cherubism

Inclusion criteria

patients with cherubism

Exclusion criteria

Exclusion Criteria:

patients without cherubism

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
33 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • cherubism patients

    no interventions

    Other: no interventions

Interventions

  • Otherno interventions

    no interventions

06

What researchers measure

Primary outcomes

  1. Disease progression

    We will take a history and examine patients with cherubism and look for disease progression.

    Time frame: 10 years

Secondary outcomes

  1. patient growth

    We will measure height and weight

    Time frame: 10 years

  2. bone abnormalities

    We will take panorex radiographs.

    Time frame: 10 years

07

Study locations

1 site
  • Cleveland Clinic
    Cleveland, Ohio 44195, United States
08

References and documents

Publications

  • 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. PubMed 16786512 ↗
  • 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. PubMed 22820184 ↗
  • 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. PubMed 22640988 ↗

Individual participant data

Plan to share: No — There is no plan to share IPD.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 10, 2017, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01916772
Lead sponsor
The Cleveland Clinic
Responsible party
Sponsor
First posted
Aug 6, 2013
Start date
Jul 2013
Primary completion
Sep 2016
Completion
Sep 2016
Last update
Jan 10, 2017

Study contacts

Steven Lietman
principal investigator · The Cleveland Clinic

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jan 2017. You cannot join it, but the record below documents what was studied.

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