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

Descriptive Information
Brief Title † Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Official Title † Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Brief 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.
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. 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.
Study Phase N/A
Study Type † Observational
Study Design †
Primary Outcome Measure † Identify four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD)
Secondary Outcome Measure †
Condition † Cockayne Syndrome Skin Cancer Xeroderma Pigmentosum Trichothiodystrophy Genodermatosis
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 700
Start Date † April 26, 1999
Completion Date
Primary Completion Date
Eligibility 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 TTD 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.
Gender All
Ages 1 Year - 99 Years
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts †† Deborah E Tamura, R.N., (240) 760-6141, tamurad@mail.nih.gov
Location Countries † United States
Administrative Information
NCT ID † NCT00001813
Organization ID 990099
Secondary IDs †† 99-C-0099
Responsible Party Sponsor
Study Sponsor † National Cancer Institute (NCI)
Collaborators ††
Investigators † Principal Investigator: Kenneth H Kraemer, M.D., National Cancer Institute (NCI)
Information Provided By
Verification Date January 11, 2017
First Received Date † November 3, 1999
Last Updated Date April 21, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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