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.

Condition
Cockayne Syndrome Skin Neoplasm Xeroderma Pigmentosum

Further Study Details: 

Expected Total Enrollment:  250

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. A number of these patients have been identified in Israel. 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.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

INCLUSION CRITERIA:
Patients with XP, XP/CS, CS, or TTD will be sought by collaborators in Israel.
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 TDD 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.

Maryland
      National Cancer Institute (NCI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  990099; 99-C-0099
Record last reviewed:  February 28, 2005
Last Updated:  March 7, 2005
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001813
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08