Protocol Details

Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	99-C-0099
Sponsoring Institute	National Cancer Institute (NCI)
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	Abnormal Hair; Human Mutations; Neurologic Degeneration; Retinopathy; Skin Cancer; DNA Repair Disorders
Recruitment Keyword(s)	None
Condition(s)	Cockayne Syndrome; Skin Neoplasm; Xeroderma Pigmentosum
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Cancer Institute

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.

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Eligibility

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 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.

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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

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Contacts:

Principal Investigator	Referral Contact	For more information:
Kenneth H. Kraemer, M.D. National Cancer Institute (NCI) National Institutes of Health BG 37 RM 4002 37 CONVENT DR BETHESDA MD 20814 (301) 496-9033 kraemerk@mail.nih.gov	Deborah E. Tamura, R.N. National Cancer Institute (NCI) National Institutes of Health Building 37 Room 4002 37 Convent Drive Bethesda, Maryland 20892 (301) 594-5030 tamurad@mail.nih.gov	NCI Referral Office National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office 1-888-NCI-1937

Clinical Trials Number:

NCT00001813

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