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Genetic Analysis of Familial Keloids

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ClinicalTrials.gov Identifier: NCT00008502
Recruitment Status : Completed
First Posted : January 15, 2001
Last Update Posted : December 7, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:

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.

Condition or disease

Detailed Description:
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 Design

Study Type : Observational
Actual Enrollment : 106 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Analysis of Familial Keloids
Study Start Date : January 10, 2001

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing
U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :
  1. Finding a genetic locus [ Time Frame: 12/01/2018 ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

    1. Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year (this description represents classic keloid, and avoids hypertrophic scar)
    2. 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.
    3. Unaffected family members: all family members who lack keloids.
    4. Impaired subjects for whom a legal guardian provides consent.
    5. Pregnant women.


  1. Subjects who are unwilling or unable to give informed consent or assent.
  2. Impaired individuals from whom it not possible to obtained parental consent (minors) or guardian consent (adults).
  3. Keloid patients who have <3 relatives with keoids.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00008502

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Jeffrey B Kopp, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
More Information

Additional Information:
Responsible Party: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier: NCT00008502     History of Changes
Other Study ID Numbers: 010062
First Posted: January 15, 2001    Key Record Dates
Last Update Posted: December 7, 2017
Last Verified: November 28, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ):
African Americans
Familial Disposition

Additional relevant MeSH terms:
Collagen Diseases
Connective Tissue Diseases
Pathologic Processes