NCT01916772

Brief Summary

To observe the natural history of cherubism.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
33

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jul 2013

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2013

Completed
24 days until next milestone

First Submitted

Initial submission to the registry

July 25, 2013

Completed
12 days until next milestone

First Posted

Study publicly available on registry

August 6, 2013

Completed
3.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2016

Completed
Last Updated

January 10, 2017

Status Verified

January 1, 2017

Enrollment Period

3.2 years

First QC Date

July 25, 2013

Last Update Submit

January 6, 2017

Conditions

Cherubism

Keywords

cherubismbone tumors

Outcome Measures

Primary Outcomes (1)

  • Disease progression

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

    10 years

Secondary Outcomes (2)

  • patient growth

    10 years

  • bone abnormalities

    10 years

Study Arms (1)

cherubism patients

no interventions

Other: no interventions

Interventions

no interventionsOTHER

no interventions

cherubism patients

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

We will see patients with cherubism

You may qualify if:

  • patients with cherubism

You may not qualify if:

  • patients without cherubism

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Related Publications (3)

  • 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.

    PMID: 16786512BACKGROUND

  • 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.

    PMID: 22820184BACKGROUND

  • 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.

    PMID: 22640988BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

We may take blood or skin samples.

MeSH Terms

Conditions

CherubismBone Neoplasms

Condition Hierarchy (Ancestors)

Fibrous Dysplasia of BoneOsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesJaw DiseasesStomatognathic DiseasesMaxillofacial AbnormalitiesCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornNeoplasms by SiteNeoplasms

Study Officials

  • Steven Lietman

    The Cleveland Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 25, 2013

First Posted

August 6, 2013

Study Start

July 1, 2013

Primary Completion

September 1, 2016

Study Completion

September 1, 2016

Last Updated

January 10, 2017

Record last verified: 2017-01

Data Sharing

IPD Sharing
Will not share

There is no plan to share IPD.

Locations

US(1)