Genetic Analysis of Keloids

NCT ID: NCT01619553

Last Updated: 2024-12-11

Study Results

Results pending

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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Recruitment Status

RECRUITING

Total Enrollment

7000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-04-30

Study Completion Date

2025-12-31

Brief Summary

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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

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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

Conditions

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Keloid

Keywords

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keloid fibrosis wound healing scar

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

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

* 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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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UConn Health

OTHER

Sponsor Role lead

Responsible Party

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Ernst Reichenberger

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

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

Site Status RECRUITING

Countries

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United States

Central Contacts

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Ernst Reichenberger, PhD

Role: CONTACT

Phone: 866-512-9897

Email: [email protected]

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.

Reference Type BACKGROUND
PMID: 15140214 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 11708945 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 28905881 (View on PubMed)

Related Links

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https://health.uconn.edu/reichenberger-lab/

Reichenberger lab research information

Other Identifiers

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UCHC03-007

Identifier Type: -

Identifier Source: org_study_id