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Genetic Analysis of Keloids

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ClinicalTrials.gov Identifier: NCT01619553
Recruitment Status : Recruiting
First Posted : June 14, 2012
Last Update Posted : October 26, 2017
Sponsor:
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
Keloid

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

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

Group/Cohort
affected
individuals with keloids
unaffected
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


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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.
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT01619553


Contacts
Contact: Ernst Reichenberger, PhD 866-512-9897 reichenberger@uchc.edu

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