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Home > "G" Clinical Trials Conditions > Genetic Analysis of Familial Keloids  Genetic Analysis of Familial Keloids
Genetic Analysis of Familial Keloids
For Condition: Keloid
Status: Recruiting
Sponsor(s): National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ,
Synopsis: 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.
Details: 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 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. First, we will use candidate gene analysis, focusing initially on the CBP and TGF1B genes and a recently-identified locus on chromosome 14. Second, we will perform a genome scan using an appropriate marker gene set.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year Affected family members: all family members of the proband who are greater than 12 years of age and 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 and are greater than or equal to 18 years of age. EXCLUSION CRITERIA: Patients who are unwilling or unable to give informed consent or assent. Patients found on examination to have hypertrophic scars and not keloids. Keloid patients who have no relatives with keloids. Patients who have developed keloids following phlebotomy in the antecubital fossa will not undergo phlebotomy as part of this study.
Total Enrollment: 200
Location and Contact Information:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 010062; 01-DK-0062
Study Start Date: January 9, 2001
Record last reviewed: November 26, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00008502
Other Keloid Studies:
1. Genetic Analysis of Familial Keloids
Related Studies:
Other Keloid Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Genetic Analysis of Familial Keloids
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