Protocol Details

Genetic Analysis of Familial Keloids

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	01-DK-0062
Sponsoring Institute	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Candidate Gene; Genome Scan; TGF-Beta; CBP Gene
Recruitment Keyword(s)	Keloids; Familial Disposition
Condition(s)	Keloid
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Diabetes and Digestive and Kidney Diseases

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.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year (this description represents classic keloid, and avoids hypertropic 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.

EXCLUSION CRITERIA:

Patients who are unwilling or unable to give informed consent or assent.

Keloid patients who have less than 3 relatives with keloids.

--Back to Top--

Citations:

Keloids

Genetic studies on keloid

Histologic basis of keloid and hypertrophic scar differentiation Clinicopathologic correlation

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
Jeffrey B. Kopp, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health BG 10 RM 3N116 10 CENTER DR BETHESDA MD 20814 (301) 594-3403 jeffreyk@mail.nih.gov	Lilian V. Howard, C.R.N.P. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health 10 CENTER DR BG 10 RM 3N104 MSC 1268 BETHESDA MD 20892-1268 (301) 594-0298 lh357n@nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00008502

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov