NCT01630447

Brief Summary

The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.

Trial Health

77
On Track

Trial Health Score

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

Enrollment
600

participants targeted

Target at P75+ for all trials

Timeline
55mo left

Started Apr 2009

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

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 Progress79%
Apr 2009Dec 2030

Study Start

First participant enrolled

April 1, 2009

Completed
3.2 years until next milestone

First Submitted

Initial submission to the registry

June 25, 2012

Completed
3 days until next milestone

First Posted

Study publicly available on registry

June 28, 2012

Completed
18.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2030

Last Updated

April 15, 2026

Status Verified

April 1, 2026

Enrollment Period

21.7 years

First QC Date

June 25, 2012

Last Update Submit

April 14, 2026

Conditions

Cherubism

Keywords

cherubismboneautoinflammatory disorderosteoblastosteoclastmandiblemaxilla

Outcome Measures

Primary Outcomes (1)

  • Identification of genetic elements

    The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

    at time of identification

Eligibility Criteria

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

Individuals with clinically diagnosed cherubism

You may qualify if:

  • cherubism; unaffected individuals only if part of a participating cherubism family

You may not qualify if:

  • no cherubism unaffected individuals only as part of a participating cherubism family

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Connecticut Health Center

Farmington, Connecticut, 06030, United States

RECRUITING

Related Publications (13)

  • Levaot N, Voytyuk O, Dimitriou I, Sircoulomb F, Chandrakumar A, Deckert M, Krzyzanowski PM, Scotter A, Gu S, Janmohamed S, Cong F, Simoncic PD, Ueki Y, La Rose J, Rottapel R. Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. Cell. 2011 Dec 9;147(6):1324-39. doi: 10.1016/j.cell.2011.10.045.

    PMID: 22153076BACKGROUND

  • Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. doi: 10.1038/88832.

    PMID: 11381256RESULT

  • Gilbert G, Defillo M, Delcan JL, David P. [Results of anastomoses in the tetralogy of Fallot]. Union Med Can. 1966 Dec;95(12):1377-84. No abstract available. French.

    PMID: 5996221RESULT

  • Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell. 2007 Jan 12;128(1):71-83. doi: 10.1016/j.cell.2006.10.047.

    PMID: 17218256RESULT

  • Wang CJ, Chen IP, Koczon-Jaremko B, Boskey AL, Ueki Y, Kuhn L, Reichenberger EJ. Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. Bone. 2010 May;46(5):1306-15. doi: 10.1016/j.bone.2010.01.380. Epub 2010 Feb 1.

    PMID: 20117257RESULT

  • Levaot N, Simoncic PD, Dimitriou ID, Scotter A, La Rose J, Ng AH, Willett TL, Wang CJ, Janmohamed S, Grynpas M, Reichenberger E, Rottapel R. 3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions. J Clin Invest. 2011 Aug;121(8):3244-57. doi: 10.1172/JCI45843. Epub 2011 Jul 18.

    PMID: 21765218RESULT

  • 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: 22640988RESULT

  • Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. Epub 2012 May 24.

    PMID: 22640403RESULT

  • Yoshimoto T, Hayashi T, Kondo T, Kittaka M, Reichenberger EJ, Ueki Y. Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model. J Bone Miner Res. 2018 Aug;33(8):1513-1519. doi: 10.1002/jbmr.3449. Epub 2018 May 22.

    PMID: 29669173RESULT

  • Yoshitaka T, Mukai T, Kittaka M, Alford LM, Masrani S, Ishida S, Yamaguchi K, Yamada M, Mizuno N, Olsen BR, Reichenberger EJ, Ueki Y. Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. Cell Rep. 2014 Sep 25;8(6):1752-1766. doi: 10.1016/j.celrep.2014.08.023. Epub 2014 Sep 15.

    PMID: 25220465RESULT

  • Mione MC, Dhital KK, Amenta F, Burnstock G. An increase in the expression of neuropeptidergic vasodilator, but not vasoconstrictor, cerebrovascular nerves in aging rats. Brain Res. 1988 Sep 13;460(1):103-13. doi: 10.1016/0006-8993(88)91210-3.

    PMID: 3265349RESULT

  • Kittaka M, Yoshimoto T, Schlosser C, Kajiya M, Kurihara H, Reichenberger EJ, Ueki Y. Microbe-Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice. JBMR Plus. 2020 Apr 14;4(6):e10352. doi: 10.1002/jbm4.10352. eCollection 2020 Jun.

    PMID: 32537546RESULT

  • Fujii Y, Monteiro N, Sah SK, Javaheri H, Ueki Y, Fan Z, Reichenberger EJ, Chen IP. Tlr2/4-Mediated Hyperinflammation Promotes Cherubism-Like Jawbone Expansion in Sh3bp2 (P416R) Knockin Mice. JBMR Plus. 2021 Oct 30;6(1):e10562. doi: 10.1002/jbm4.10562. eCollection 2022 Jan.

    PMID: 35079675RESULT

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

Saliva, blood, bone tissue

MeSH Terms

Conditions

Cherubism

Condition Hierarchy (Ancestors)

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

Study Officials

  • Ernst J Reichenberger, PhD

    UConn Health

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Ernst J Reichenberger, PhD

CONTACT

860-679-2062reichenberger@uchc.edu

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assoc. Prof.

Study Record Dates

First Submitted

June 25, 2012

First Posted

June 28, 2012

Study Start

April 1, 2009

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Last Updated

April 15, 2026

Record last verified: 2026-04

Locations

US(1)