CherubismNCT01916772
Natural History of Cherubism Observational Study
An observational study of Cherubism, run by The Cleveland Clinic at 1 site in United States.
Trial summary
To observe the natural history of cherubism. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Cherubism
- How many people
- 33 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2013to Sep 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: We will see patients with cherubism
Who may be able to join
- patients with cherubism
Who cannot join
- patients without cherubism
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural Hisotry of Cherubism Observational Study
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.
- Conditions
- Cherubism
- Being tested
- no interventions
- Keywords
- cherubism, bone tumors
- Medical subject headings
- Cherubism, Bone Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionsOther
no interventions
| Study group | Role | What they receive |
|---|---|---|
| cherubism patients | no interventions Receives: Other: no interventions |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression
We will take a history and examine patients with cherubism and look for disease progression.
Measured: 10 years
Secondary outcomes (2)
patient growth
We will measure height and weight
Measured: 10 years
bone abnormalities
We will take panorex radiographs.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2013 (estimated)
- Study startJul 2013
- Primary completionSep 2016
- Study completionSep 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for CherubismStudies of the same condition, open and under way.
- More trials run by The Cleveland ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 33 participants (actual)
Sponsor and investigators
- Lead sponsor
- The Cleveland Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Steven Lietman, Principal investigator, The Cleveland Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01916772
- Sponsor's protocol ID
- CCFO7256
- Status last verified
- Jan 2017
- First submitted
- 25 Jul 2013
- Last updated
- 10 Jan 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No: There is no plan to share IPD.
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 16786512Fan 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 22820184Reichenberger 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
Study at a glance
From the registry record, last updated by the sponsor on 10 Jan 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural Hisotry of Cherubism Observational Study
- ClinicalTrials.gov ID
- NCT01916772
- Acronym / sponsor ID
- CCFO7256
- Conditions
- Cherubism
- Keywords
- cherubism, bone tumors
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 33 participants (actual)
- Lead sponsor
- The Cleveland ClinicUniversity, hospital or other
- Study start
- Jul 2013
- Primary completion
- Sep 2016 (actual)
- Study completion
- Sep 2016 (actual)
- First posted
- 6 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To observe the natural history of cherubism.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| cherubism patients | – | Other: no interventionsno interventions |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We will see patients with cherubism
Key inclusion criteria (1 listed)
- patients with cherubism
Key exclusion criteria (1 listed)
- patients without cherubism
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionsno interventions | Other | cherubism patients |
Primary outcome
Disease progression
Time frame: 10 years
We will take a history and examine patients with cherubism and look for disease progression.
2 secondary outcomes
patient growth
Time frame: 10 years
bone abnormalities
Time frame: 10 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2017.
- Background: PubMed 16786512Lietman 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.
- Background: PubMed 22820184Fan 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.
- Background: PubMed 22640988Reichenberger 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.
- Individual participant dataSharing planned: No. There is no plan to share IPD.
Related trials for Cherubism
RecruitingObservational study
Genetic and Functional Analysis of Cherubism
Cherubism
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Steven Lietman principal investigator
The Cleveland Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cherubism, run by The Cleveland Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease progression (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01916772, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jan 2017.