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Genetic Analysis of Keloids

Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT01619553
Enrollment
7000
Registered
2012-06-14
Start date
2009-04-01
Completion date
2030-12-01
Last updated
2026-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Keloid

Keywords

keloid, fibrosis, wound healing, scar

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.

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

Interventions

None listed

Sponsors

UConn Health
Lead SponsorOTHER

Study design

Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Healthy volunteers
No

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

Design outcomes

Primary

MeasureTime frameDescription
Identification of genetic elementsat time of identificationThe goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.

Countries

United States

Contacts

CONTACTErnst Reichenberger, PhD
reichenberger@uchc.edu866-512-9897
PRINCIPAL_INVESTIGATORErnst Reichenberger, PhD

UConn Health

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Apr 16, 2026