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Genetic Analysis of Keloids

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01619553
Recruitment Status : Recruiting
First Posted : June 14, 2012
Last Update Posted : November 29, 2019
Information provided by (Responsible Party):
Ernst Reichenberger, UConn Health

Brief Summary:
Keloids have a strong genetic component. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for keloids or contribute to keloid scarring.

Condition or disease

Detailed Description:

Keloids are scars that keep growing beyond the border of the original wound. They typically persist for several years, expand for an extensive period of time and are sometimes called benign tumors. Keloids often have a lumpy surface and are often tender, itchy or inflamed around the growing border.

Keloids in most keloid patients do not run in the family. In the inheritable form of keloids it is possible that there is one major gene mutation that puts family members at risk for developing keloids. There may be other variations in the DNA (DNA makes up the chromosomes) that determine whether keloids become large and aggressive or stay small and without many symptoms.

For this study we will:

  • Send out study participation kits and consent by phone
  • Collect a saliva sample from eligible individuals
  • Obtain information regarding the keloids
  • Document keloids with photos
  • If keloid patients undergo keloid surgery we ask to obtain some scar tissue that would otherwise be discarded
  • Isolate DNA from the saliva sample
  • Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations
  • Study in the laboratory why the genetic variations cause keloids

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Study Type : Observational
Estimated Enrollment : 4000 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
Study Start Date : April 2009
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

individuals with keloids
unrelated unaffected controls or unaffected family members

Primary Outcome Measures :
  1. Identification of genetic elements [ Time Frame: at time of identification ]
    The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

Biospecimen Retention:   Samples With DNA
Saliva, blood, scar tissue

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with diagnosed keloids.

Inclusion Criteria:

  • keloids;
  • unaffected individuals only if part of a participating keloid family

Exclusion Criteria:

  • no keloids;
  • unaffected individuals only as part of a participating keloid family

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 identifier (NCT number): NCT01619553

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Contact: Ernst Reichenberger, PhD 866-512-9897

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United States, Connecticut
University of Connecticut Health Center (UCHC) Recruiting
Farmington, Connecticut, United States, 06030-3705
Sponsors and Collaborators
UConn Health
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Principal Investigator: Ernst Reichenberger, PhD UConn Health

Additional Information:
Publications of Results:
Other Publications:
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Responsible Party: Ernst Reichenberger, Associate Professor, UConn Health Identifier: NCT01619553    
Other Study ID Numbers: UCHC03-007
First Posted: June 14, 2012    Key Record Dates
Last Update Posted: November 29, 2019
Last Verified: November 2019
Keywords provided by Ernst Reichenberger, UConn Health:
wound healing
Additional relevant MeSH terms:
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Collagen Diseases
Connective Tissue Diseases
Pathologic Processes