Genetic Analysis of Familial Keloids

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2015 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ) Identifier:
First received: January 12, 2001
Last updated: June 5, 2015
Last verified: June 2015

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.


Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: Genetic Analysis of Familial Keloids

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Finding a genetic locus [ Time Frame: 12/01/2018 ] [ Designated as safety issue: No ]

Estimated Enrollment: 500
Study Start Date: January 2001
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 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.

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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.

Pregnant women.


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

Keloid patients who have less than 3 relatives with keloids.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00008502

Contact: Anaida Widell (301) 451-9946
Contact: Jeffrey B Kopp, M.D. (301) 594-3403

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
United States, New York
St. Luke's Roosevelt Hospital Recruiting
New York, New York, United States, 10025
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 Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ) Identifier: NCT00008502     History of Changes
Other Study ID Numbers: 010062, 01-DK-0062
Study First Received: January 12, 2001
Last Updated: June 5, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
African Americans
Familial Disposition

Additional relevant MeSH terms:
Collagen Diseases
Connective Tissue Diseases
Pathologic Processes processed this record on November 27, 2015