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Genetic Analysis of Keloids

This study is currently recruiting participants.
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Verified September 2016 by Ernst Reichenberger, University of Connecticut Health Center
Information provided by (Responsible Party):
Ernst Reichenberger, University of Connecticut Health Center Identifier:
First received: June 12, 2012
Last updated: September 8, 2016
Last verified: September 2016
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.


Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.

Further study details as provided by Ernst Reichenberger, University of Connecticut Health Center:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 4000
Study Start Date: April 2009
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
individuals with keloids
unrelated unaffected controls or unaffected family members

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

Ages Eligible for Study:   Child, Adult, Senior
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
  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: NCT01619553

Contact: Ernst Reichenberger, PhD 866-512-9897

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

Additional Information:
Responsible Party: Ernst Reichenberger, Associate Professor, University of Connecticut Health Center Identifier: NCT01619553     History of Changes
Other Study ID Numbers: UCHC03-007
Study First Received: June 12, 2012
Last Updated: September 8, 2016

Keywords provided by Ernst Reichenberger, University of Connecticut Health Center:
wound healing

Additional relevant MeSH terms:
Collagen Diseases
Connective Tissue Diseases
Pathologic Processes processed this record on June 22, 2017