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

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001813
First received: November 3, 1999
Last updated: April 25, 2014
Last verified: April 2014
  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 Cancer
Xeroderma Pigmentosum
Trichothiodystrophy
Genodermatosis

Study Type: Observational
Study Design: Time Perspective: Prospective
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:


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

Primary Outcome Measures:
  • Identify four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) [ Time Frame: Up to 3 days ] [ Designated as safety issue: No ]

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

Ages Eligible for Study:   1 Year and older
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

Contacts
Contact: Deborah E Tamura, R.N. (301) 594-5030 tamurad@mail.nih.gov
Contact: Kenneth H Kraemer, M.D. (301) 496-9033 kraemerk@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    (888) NCI-1937      
Sponsors and Collaborators
Investigators
Principal Investigator: Kenneth H Kraemer, M.D. National Cancer Institute (NCI)
  More Information

Additional Information:
Publications:
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: April 25, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Xeroderma Pigmentosum
Trichothiodystrophy
Cockayne Syndrome
Skin Cancer
DNA Repair

Additional relevant MeSH terms:
Cockayne Syndrome
Syndrome
Skin Neoplasms
Xeroderma Pigmentosum
Trichothiodystrophy Syndromes
Skin Diseases, Genetic
Disease
Pathologic Processes
Neoplasms by Site
Neoplasms
Skin Diseases
Precancerous Conditions
Skin Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Photosensitivity Disorders
Pigmentation Disorders
DNA Repair-Deficiency Disorders
Metabolic Diseases
Dwarfism
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Abnormalities, Multiple

ClinicalTrials.gov processed this record on September 18, 2014