KeloidNCT01619553
Genetic Analysis of Keloids
An observational study of Keloid, run by UConn Health at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Keloid
- How many people
- 7,000 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2009to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with diagnosed keloids.
Who may be able to join
- keloids;
- unaffected individuals only if part of a participating keloid family
Who cannot join
- no keloids;
- unaffected individuals only as part of a participating keloid family
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Connecticut Health Center (UCHC)
Farmington, Connecticut, 06030-3705
About this study
Official title: Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
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.
Read the 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
- Conditions
- Keloid
- Keywords
- keloid, fibrosis, wound healing, scar
- Medical subject headings
- Keloid, Fibrosis, Cicatrix
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| affected | individuals with keloids | |
| unaffected | unrelated unaffected controls or unaffected family members |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: at time of identification
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2012 (estimated)
- Study startApr 2009
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for KeloidStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 7,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- UConn Health
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ernst Reichenberger, UConn Health
- Investigators
- Ernst Reichenberger, PhD, Principal investigator, UConn Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01619553
- Sponsor's protocol ID
- UCHC03-007
- Status last verified
- Apr 2026
- First submitted
- 12 Jun 2012
- Last updated
- 15 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 15140214Marneros 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.
PubMed 11708945Santos-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.
PubMed 28905881
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.
- ClinicalTrials.gov ID
- NCT01619553
- Acronym / sponsor ID
- UCHC03-007
- Conditions
- Keloid
- Keywords
- keloid, fibrosis, wound healing, scar
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 7,000 participants (estimated)
- Lead sponsor
- UConn HealthUniversity, hospital or other
- Study start
- Apr 2009
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 14 Jun 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| affected | – | –individuals with keloids |
| unaffected | – | –unrelated unaffected controls or unaffected family members |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with diagnosed keloids.
Key inclusion criteria (2 listed)
- keloids;
- unaffected individuals only if part of a participating keloid family
Key exclusion criteria (2 listed)
- no keloids;
- unaffected individuals only as part of a participating keloid family
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of genetic elements
Time frame: at time of identification
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Apr 2026.
- Background: PubMed 15140214Marneros 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.
- Background: PubMed 11708945Marneros 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.
- Background: PubMed 28905881Santos-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.
- Reichenberger lab research informationLink provided by the sponsor.
Related trials for Keloid
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Transdermal Versus Intralesional Betamethasone for Keloids
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Ritlecitinib in Patients With Keloids or Those Undergoing Keloidectomy
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Keloid Pathogenesis And Fibroblast Activation Study
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ernst Reichenberger, PhD principal investigator
UConn Health
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Keloid, run by UConn Health at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ernst Reichenberger, PhD (866-512-9897, reichenberger@uchc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic elements (time frame: at time of identification). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01619553, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Apr 2026.