Clinical trial NCT01619553: Genetic Analysis of Keloids
Official title: Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Keloid
Keywords: keloid
fibrosis
wound healing
scar
Lead sponsor: UConn Health
Sponsor class: OTHER
First posted: 2012-06-14
Enrollment: 7000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with diagnosed keloids.

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

Eligibility 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

Primary outcomes:
measure: Identification of genetic elements
timeFrame: at time of identification
Secondary outcomes:
Other outcomes:
Locations:
city: Farmington
country: United States
facility: University of Connecticut Health Center (UCHC)
state: Connecticut
Study officials:
affiliation: UConn Health
name: Ernst Reichenberger, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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.
citation: 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.
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.