Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00008502
Status:
COMPLETED
Last Update Posted:
2021-08-27
First Post:
2001-01-12
Brief Title:
Genetic Analysis of Familial Keloids
Sponsor:
National Institute of Diabetes and Digestive and Kidney Diseases NIDDK
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Familial Keloids
Status:
COMPLETED
Status Verified Date:
2021-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 01-DK-0062 | None | None | None |