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 May 2013 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: March 14, 2014
Last verified: May 2013
  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:


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: 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: March 14, 2014
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:
Pigmentation Disorders
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

ClinicalTrials.gov processed this record on April 16, 2014