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

This study is currently recruiting participants.

Verified June 2011 by National Institutes of Health Clinical Center (CC)

First Received on November 3, 1999. Last Updated on December 30, 2011 History of Changes

Sponsor:	National Cancer Institute (NCI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001813

Purpose

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

Study Type:	Observational
Official Title:	Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Resource links provided by NLM:

Genetics Home Reference related topics: Cockayne syndrome lamellar ichthyosis nonbullous congenital ichthyosiform erythroderma pseudoachondroplasia trichothiodystrophy xeroderma pigmentosum

MedlinePlus related topics: Cancer Skin Cancer

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	600
Study Start Date:	April 1999

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. 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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

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 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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001813

Contacts

Contact: NCI Referral Office	1-888-NCI-1937
Contact: Deborah E. Tamura, R.N.	(301) 594-5030	tamurad@mail.nih.gov

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Sub-Investigator: National Cancer Institute Referral Office For more information at the NIH Clinical Center contact

Sponsors and Collaborators

National Cancer Institute (NCI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Barrett SF, Robbins JH, Tarone RE, Kraemer KH. 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. Mutat Res. 1991 Nov;255(3):281-91.

Berkel AI, Kiran O. Immunological studies in children with xeroderma pigmentosum. Turk J Pediatr. 1974 Apr;16(2):43-52. No abstract available.

Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. 1989;31(3):276-7.

ClinicalTrials.gov Identifier:	NCT00001813 History of Changes
Obsolete Identifiers:	NCT00004044
Other Study ID Numbers:	990099, 99-C-0099
Study First Received:	November 3, 1999
Last Updated:	December 30, 2011
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Abnormal Hair
Human Mutations
Neurologic Degeneration

Retinopathy
Skin Cancer
DNA Repair Disorders

Additional relevant MeSH terms:

Congenital Abnormalities
Neoplasms
Skin Neoplasms
Cockayne Syndrome
Ichthyosis
Xeroderma Pigmentosum
Trichothiodystrophy Syndromes
Neoplasms by Site
Skin Diseases
Dwarfism
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases
Nervous System Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Skin Abnormalities
Infant, Newborn, Diseases
Keratosis
Precancerous Conditions
Skin Diseases, Genetic
Photosensitivity Disorders
Pigmentation Disorders

ClinicalTrials.gov processed this record on February 12, 2012