Genetic Analysis of Keloids
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Keloid. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
Overview
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
Primary outcome measures
- Identification of genetic elements [Time frame: at time of identification]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- University of Connecticut Health Center (UCHC) — Farmington
Publications
- 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. PMID 15140214
- 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. PMID 11708945
- 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. PMID 28905881
Identifiers
NCT: NCT01619553 · UCHC03-007