Genetic Analysis of Keloids
Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
1 other identifier
observational
7,000
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2009
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 1, 2009
CompletedFirst Submitted
Initial submission to the registry
June 12, 2012
CompletedFirst Posted
Study publicly available on registry
June 14, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2030
April 15, 2026
April 1, 2026
21.7 years
June 12, 2012
April 14, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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
Study Arms (2)
affected
individuals with keloids
unaffected
unrelated unaffected controls or unaffected family members
Eligibility Criteria
Individuals with diagnosed keloids.
You may qualify if:
- keloids;
- unaffected individuals only if part of a participating keloid family
You may not qualify if:
- no keloids;
- unaffected individuals only as part of a participating keloid family
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- UConn Healthlead
Study Sites (1)
University of Connecticut Health Center (UCHC)
Farmington, Connecticut, 06030-3705, United States
Related Publications (3)
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: 15140214BACKGROUNDMarneros 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: 11708945BACKGROUNDSantos-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: 28905881BACKGROUND
Related Links
Biospecimen
Saliva, blood, scar tissue
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Ernst Reichenberger, PhD
UConn Health
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Associate Professor
Study Record Dates
First Submitted
June 12, 2012
First Posted
June 14, 2012
Study Start
April 1, 2009
Primary Completion (Estimated)
December 1, 2030
Study Completion (Estimated)
December 1, 2030
Last Updated
April 15, 2026
Record last verified: 2026-04