Genetic and Functional Analysis of Cherubism
ConditionCherubism
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUConn Health
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
cherubism; unaffected individuals only if part of a participating cherubism family
Disqualifiers
no cherubism unaffected individuals only as part of a participating cherubism family
Trial population
Individuals with clinically diagnosed cherubism
Trial design
Design model
Case-only
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
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.
Time frame
at time of identificationSponsors and contacts
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Source ClinicalTrials.gov