Genetic Analysis of Familial Keloids
|First Received Date ICMJE||January 12, 2001|
|Last Updated Date||December 24, 2015|
|Start Date ICMJE||January 2001|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||Finding a genetic locus [ Time Frame: 12/01/2018 ] [ Designated as safety issue: No ]|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00008502 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Genetic Analysis of Familial Keloids|
|Official Title ICMJE||Genetic Analysis of Familial Keloids|
The purpose of this study is to identify the gene or genes responsible for keloid formation. Keloids are raised scars on the skin that form after a minor injury. A tendency to develop keloids often runs in families, suggesting a possible genetic basis.
People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.
Probands and family members with keloids will have a medical history focusing on skin problems particularly keloids and a skin examination. In some cases, with the subject s permission, photos of the keloids will be taken. All participants will have 35 milliliters (about 2 tablespoons) of blood drawn for DNA (genetic) testing and for measurement of blood proteins, including cytokines, which can affect other tissues and cause scarring. Part of the blood sample will be used for additional genetic studies unrelated to keloids. The samples will be coded for confidentiality.
Keloids represent a pathologic fibrosis which occurs in the skin after trauma and which
grow beyond the boundaries of injury. Keloids occur in people of all racial backgrounds;
however, individuals of African descent are more susceptible to the disease. A familial
disposition to keloid formation has long been recognized, but the genetic basis for this racial and familial predisposition has not been identified. We hypothesize that the increased risk is a direct result of one or more disease susceptibility genes. We will pursue two approaches, which are presented as two study modules. In module 1, we will carry out a family study. We will identify affected pedigrees, each containing at least 3 individuals with keloids. Blood will be obtained and Epstein Barr virus-transformed permanent B cell lines will be established. We anticipate taking two analytic strategies. We will use candidate gene analysis, focusing initially on the CBP and TGF1B genes and a recently identified locus on chromosome 14, and we will use genome-wide markers to identify possible disease gene loci. In module 2, we will perform a genome scan to address the hypothesis that one or more African origin genetic variants account for the excess prevalence of keloids among African Americans. We will carry out a mapping by admixture linkage disequilibrium (MALD) scan, in order to find genetic regions where differences in the distribution of particular tagging single nucleotide polymorphisms (SNPs) between keloid cases and controls indicate excess African ancestry. Further analysis of these loci will be carried out to identify the causative genetic variants.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Time Perspective: Cross-Sectional|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||500|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year (this description represents classic keloid, and avoids hypertropic scar).
Affected family members: all family members of the proband who have either classic keloids, as described above, or non-classic keloids, such as ball shaped-keloids on the ear.
Unaffected family members: all family members who lack keloids.
Impaired subjects for whom a legal guardian provides consent.
Patients who are unwilling or unable to give informed consent or assent.
Keloid patients who have less than 3 relatives with keloids.
|Accepts Healthy Volunteers||No|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00008502|
|Other Study ID Numbers ICMJE||010062, 01-DK-0062|
|Has Data Monitoring Committee||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )|
|Study Sponsor ICMJE||National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||June 2015|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP