Genetic Analysis of Keloids

Keloid Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01619553
• Other study ID #: UCHC03-007
• Status: Recruiting
• Start date: April 2009
• Est. completion date: December 2025

Study information

• Verified date: September 2023
• Source: UConn Health
• Contact: Ernst Reichenberger, PhD
• Phone: 866-512-9897
• Email: reichenberger[@]uchc.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 7000
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Keloid

Locations

Country	Name	City	State
United States	University of Connecticut Health Center (UCHC)	Farmington	Connecticut

Sponsors (1)

Lead Sponsor	Collaborator
UConn Health

Country where clinical trial is conducted

United States, 

References & Publications (3)

Marneros AG, Norris JE, Olsen BR, Reichenberger E. Clinical genetics of familial keloids. Arch Dermatol. 2001 Nov;137(11):1429-34. doi: 10.1001/archderm.137.11.1429. — View Citation

Marneros AG, Norris JE, Watanabe S, Reichenberger E, Olsen BR. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. J Invest Dermatol. 2004 May;122(5):1126-32. doi: 10.1111/j.0022-202X.2004.22327.x. — View Citation

Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet. 2017 Oct;25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic elements	The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.	at time of identification

External Links

•   Reichenberger lab research information