Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
7000 participants
OBSERVATIONAL
2009-04-30
2025-12-31
Brief Summary
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Detailed Description
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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
Conditions
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Keywords
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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affected
individuals with keloids
No interventions assigned to this group
unaffected
unrelated unaffected controls or unaffected family members
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* unaffected individuals only if part of a participating keloid family
Exclusion Criteria
* unaffected individuals only as part of a participating keloid family
ALL
No
Sponsors
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UConn Health
OTHER
Responsible Party
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Ernst Reichenberger
Associate Professor
Principal Investigators
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Ernst Reichenberger, PhD
Role: PRINCIPAL_INVESTIGATOR
UConn Health
Locations
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University of Connecticut Health Center (UCHC)
Farmington, Connecticut, United States
Countries
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Central Contacts
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References
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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.
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.
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.
Related Links
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Reichenberger lab research information
Other Identifiers
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UCHC03-007
Identifier Type: -
Identifier Source: org_study_id