KeloidNCT00008502
Genetic Analysis of Familial Keloids
An observational study of Keloid, run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at 1 site in United States.
Trial summary
The purpose of this study is to identify the gene or genes responsible for keloid formation. Keloids are raised scars on the skin that form after a minor injury. A tendency to develop keloids often runs in families, suggesting a possible genetic basis. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Keloid
- How many people
- 106 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Aug 2001to 28 Nov 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.
Who may be able to join
- Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year (this description represents classic keloid, and avoids hypertrophic scar)
- Affected family members: all family members of the proband who have either classic keloids, as described above, or non-classic keloids, such as ball shaped-keloids on the ear.
- Unaffected family members: all family members who lack keloids.
- Impaired subjects for whom a legal guardian provides consent.
- Pregnant women.
- EXCLSUION CIRTERIA:
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- Subjects who are unwilling or unable to give informed consent or assent.
- Impaired individuals from whom it not possible to obtained parental consent (minors) or guardian consent (adults).
- Keloid patients who have <3 relatives with keoids.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
The purpose of this study is to identify the gene or genes responsible for keloid formation. Keloids are raised scars on the skin that form after a minor injury. A tendency to develop keloids often runs in families, suggesting a possible genetic basis.
People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.
Probands and family members with keloids will have a medical history focusing on skin problems-particularly keloids-and a skin examination. In some cases, with the subject s permission, photos of the keloids will be taken. All participants will have 35 milliliters (about 2 tablespoons) of blood drawn for DNA (genetic) testing and for measurement of blood proteins, including cytokines, which can affect other tissues and cause scarring. Part of the blood sample will be used for additional genetic studies unrelated to keloids. The samples will be coded for confidentiality.
Read the detailed description
Keloids represent a pathologic fibrosis which occurs in the skin after trauma and which grow beyond the boundaries of injury. Keloids occur in people of all racial backgrounds; however, individuals of African descent are more susceptible to the disease. A familial disposition to keloid formation has long been recognized, but the genetic basis for this racial and familial predisposition has not been identified. We hypothesize that the increased risk is a direct result of one or more disease susceptibility genes. We will pursue two approaches, which are presented as two study modules. In module 1, we will carry out a family study. We will identify affected pedigrees, each containing at least 3 individuals with keloids. Blood will be obtained and Epstein Barr virus-transformed permanent B cell lines will be established. We anticipate taking two analytic strategies. We will use candidate gene analysis, focusing initially on the CBP and TGF1B genes and a recently identified locus on chromosome 14, and we will use genome-wide markers to identify possible disease gene loci. In module 2, we will perform a genome scan to address the hypothesis that one or more African origin genetic variants account for the excess prevalence of keloids among African Americans. We will carry out a mapping by admixture linkage disequilibrium (MALD) scan, in order to find genetic regions where differences in the distribution of particular tagging single nucleotide polymorphisms (SNPs) between keloid cases and controls indicate excess African ancestry. Further analysis of these loci will be carried out to identify the causative genetic variants.
- Conditions
- Keloid
- Keywords
- Genetics, African Americans, Skin, Keloids
- Medical subject headings
- Keloid
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 |
|---|---|---|
| 18 years of age or older | without keloids | |
| family members over 12 years of age | who have either classic or non-classic keloids | |
| Probands | original participants who have had a classic (butterfly-shaped or wound-overflowing) keloidfor at least one year |
What is being measured
The primary outcome is the main question the study is designed to answer.
Finding a genetic locus
The purpose of this study is to identify the gene or genes responsible for keloid formation
Measured: 12/01/2018
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jan 2001 (estimated)
- Study start14 Aug 2001
- Primary completion28 Nov 2017
- Study completion28 Nov 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for KeloidStudies of the same condition, open and under way.
- More trials run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)The sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 106 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Jeffrey B Kopp, M.D., Principal investigator, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00008502
- Sponsor's protocol ID
- 010062
- Other IDs
- 01-DK-0062
- Status last verified
- Aug 2021
- First submitted
- 12 Jan 2001
- Last updated
- 27 Aug 2021
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Familial Keloids
- ClinicalTrials.gov ID
- NCT00008502
- Acronym / sponsor ID
- 010062
- Conditions
- Keloid
- Keywords
- Genetics, African Americans, Skin, Keloids
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 106 participants (actual)
- Lead sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)US National Institutes of Health
- Study start
- 14 Aug 2001 (actual)
- Primary completion
- 28 Nov 2017 (actual)
- Study completion
- 28 Nov 2017 (actual)
- First posted
- 15 Jan 2001 (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.
The purpose of this study is to identify the gene or genes responsible for keloid formation. Keloids are raised scars on the skin that form after a minor injury. A tendency to develop keloids often runs in families, suggesting a possible genetic basis.
People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.
Probands and family members with keloids will have a medical history focusing on skin problems-particularly keloids-and a skin examination. In some cases, with the subject s permission, photos of the keloids will be taken. All participants will have 35 milliliters (about 2 tablespoons) of blood drawn for DNA (genetic) testing and for measurement of blood proteins, including cytokines, which can affect other tissues and cause scarring. Part of the blood sample will be used for additional genetic studies unrelated to keloids. The samples will be coded for confidentiality.
Detailed description
Keloids represent a pathologic fibrosis which occurs in the skin after trauma and which grow beyond the boundaries of injury. Keloids occur in people of all racial backgrounds; however, individuals of African descent are more susceptible to the disease. A familial disposition to keloid formation has long been recognized, but the genetic basis for this racial and familial predisposition has not been identified. We hypothesize that the increased risk is a direct result of one or more disease susceptibility genes. We will pursue two approaches, which are presented as two study modules. In module 1, we will carry out a family study. We will identify affected pedigrees, each containing at least 3 individuals with keloids. Blood will be obtained and Epstein Barr virus-transformed permanent B cell lines will be established. We anticipate taking two analytic strategies. We will use candidate gene analysis, focusing initially on the CBP and TGF1B genes and a recently identified locus on chromosome 14, and we will use genome-wide markers to identify possible disease gene loci. In module 2, we will perform a genome scan to address the hypothesis that one or more African origin genetic variants account for the excess prevalence of keloids among African Americans. We will carry out a mapping by admixture linkage disequilibrium (MALD) scan, in order to find genetic regions where differences in the distribution of particular tagging single nucleotide polymorphisms (SNPs) between keloid cases and controls indicate excess African ancestry. Further analysis of these loci will be carried out to identify the causative genetic variants.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 18 years of age or older | – | –without keloids |
| family members over 12 years of age | – | –who have either classic or non-classic keloids |
| Probands | – | –original participants who have had a classic (butterfly-shaped or wound-overflowing) keloidfor at least one year |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.
Key inclusion criteria (9 listed)
- Subjects who are unwilling or unable to give informed consent or assent.
- Impaired individuals from whom it not possible to obtained parental consent (minors) or guardian consent (adults).
- Keloid patients who have <3 relatives with keoids.
Key exclusion criteria (0 listed)
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
Finding a genetic locus
Time frame: 12/01/2018
The purpose of this study is to identify the gene or genes responsible for keloid formation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2021.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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. This study is not recruiting at the moment.
Jeffrey B Kopp, M.D. principal investigator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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 National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 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 9 inclusion and 0 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: finished, as of the sponsor's last update on 27 Aug 2021. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Finding a genetic locus (time frame: 12/01/2018). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 27 Aug 2021.