Genetic Analysis of Familial Keloids

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00008502
First received: January 12, 2001
Last updated: August 2, 2014
Last verified: September 2013

January 12, 2001
August 2, 2014
January 2001
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Finding a genetic locus [ Time Frame: 12/01/2018 ] [ Designated as safety issue: No ]
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Complete list of historical versions of study NCT00008502 on ClinicalTrials.gov Archive Site
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Genetic Analysis of Familial Keloids
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 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.

Observational
Time Perspective: Cross-Sectional
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Keloid
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
500
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  • INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

Patients who are unwilling or unable to give informed consent or assent.

Keloid patients who have less than 3 relatives with keloids.

Both
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No
Contact: Lilian V Howard, C.R.N.P. (301) 594-0298 lh357n@nih.gov
Contact: Jeffrey B Kopp, M.D. (301) 594-3403 jeffreyk@mail.nih.gov
United States
 
NCT00008502
010062, 01-DK-0062
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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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Principal Investigator: Jeffrey B Kopp, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health Clinical Center (CC)
September 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP