Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Conditions
Cockayne Syndrome - Skin Cancer - Xeroderma Pigmentosum - Trichothiodystrophy - Genodermatosis
Conditions: official terms
Cockayne Syndrome - Skin Diseases, Genetic - Skin Neoplasms - Syndrome - Trichothiodystrophy Syndromes - Xeroderma Pigmentosum
Conditions: Keywords
Xeroderma Pigmentosum, Trichothiodystrophy, Cockayne Syndrome, Skin Cancer, DNA Repair
Study Type
Observational
Study Phase
N/A
Study Design
Time Perspective: Prospective
Overall Status
Recruiting
Summary
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.
Detailed Description
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.
Criteria for eligibility
Healthy Volunteers: Accepts Healthy Volunteers
Maximum Age: N/A
Minimum Age: 1 Year
Gender: Both
Criteria: - ELIGIBILITY CRITERIA:

Patients with XP, XP/CS, CS, or TTD of any age, gender, race or HIV status are eligible for this study. Patients will be sought by contacting professional organizations (such as the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP Society and the Share and Care CS Support Network) or by direct referral.

INCLUSION CRITERIA:

On referral, patients will be considered for inclusion in the study:

If they have clinical documentation of typical features of XP, XP/CS, CS or TTD or;

If they have laboratory documentation of defective DNA repair, or;

If they have some suggestive clinical features and are willing to participate in the study.

EXCLUSION CRITERIA:

Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
Location
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
Status: Recruiting
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office - (888) NCI-1937
Start Date
April 1999
Sponsors
National Cancer Institute (NCI)
Source
National Institutes of Health Clinical Center (CC)
Record processing date
ClinicalTrials.gov processed this data on July 28, 2015
ClinicalTrials.gov page