NIH Clinical Research Studies

Protocol Number: 99-C-0099

Active Accrual, Protocols Recruiting New Patients

Title:
Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Number:
99-C-0099
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.
Sponsoring Institute:
National Cancer Institute (NCI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility 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.

Special Instructions: Currently Not Provided
Keywords:
Abnormal Hair
Human Mutations
Neurologic Degeneration
Retinopathy
Skin Cancer
Recruitment Keywords:
None
Conditions:
Cockayne Syndrome
Skin Neoplasm
Xeroderma Pigmentosum
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
CSSC
Clinical Studies Support Center/NCI
164 Rollins Avenue
2nd FLoor
Rockville, MD 20852
Phone: (888) 624-1937
Fax: (301) 881-8239
Electronic Address: ncicssc@mail.nih.gov

Citations:
Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells

Immunological studies in children with xeroderma pigmentosum

MRI in Cockayne syndrome type I

Active Accrual, Protocols Recruiting New Patients

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