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| Descriptive Information Fields | |||||
| Brief Title † | Genetic and Clinical Study of Patients With 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 | RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may lead to both earlier detection and prevention of tumors. PURPOSE: Clinical trial to study the genetic and clinical features of patients who have xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum/Cockayne syndrome complex, or trichothiodystrophy. |
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| Detailed Description | OBJECTIVES:
OUTLINE: Patients are evaluated initially by phone, followed by a complete history and physical exam, including appropriate clinical and laboratory tests. Tissue (skin, blood, buccal swabs, or hair) is obtained for laboratory studies of the effects of DNA damage, measurement of DNA repair, genetic analysis of DNA, and/or assessment of immunologic abnormalities. If malignancies are detected during examinations and tissue collections, patients are referred for treatment. Genetic counseling is also available. Patients are followed annually. PROJECTED ACCRUAL: A total of 500 patients will be accrued for this study. |
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| Study Phase | |||||
| Study Type † | Observational | ||||
| Study Design † | |||||
| Primary Outcome Measure † | |||||
| Secondary Outcome Measure † | |||||
| Condition † | Head and Neck Cancer Intraocular Melanoma Melanoma (Skin) Non-Melanomatous Skin Cancer Precancerous/Nonmalignant Condition |
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| Intervention † | Procedure: DNA ploidy analysis Procedure: mutation analysis |
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| MEDLINE PMIDs | 16081512, 15692466, 14662655, 12060391, 12244178, 11709541, 11511294, 11764181, 11376341, 11121128, 15678607, 15334113, 12177305, 11846040, 11710926, 11023539 | ||||
| Links | Clinical trial summary from the National Cancer Institute's PDQ® database ![]() |
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| Recruitment Information Fields | |||||
| Recruitment Status † | Recruiting | ||||
| Enrollment † | 250 | ||||
| Start Date † | June 2000 | ||||
| Completion Date | |||||
| Eligibility Criteria † | DISEASE CHARACTERISTICS:
PATIENT CHARACTERISTICS: Age:
Performance status:
Hematopoietic:
Hepatic:
Renal:
PRIOR CONCURRENT THERAPY: Biologic therapy
Chemotherapy
Endocrine therapy
Radiotherapy
Surgery
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| Gender | Both | ||||
| Ages | |||||
| Accepts Healthy Volunteers | No | ||||
| Contacts †† | |||||
| Location Countries † | United States, Israel, Turkey | ||||
| Administrative Information Fields | |||||
| NCT ID † | NCT00004044 | ||||
| Organization ID | CDR0000067084 | ||||
| Secondary IDs †† | NCI-99-C-0099 | ||||
| Study Sponsor † | NCI - Center for Cancer Research-Medical Oncology | ||||
| Collaborators †† | National Cancer Institute (NCI) | ||||
| Investigators † |
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| Information Provided By | National Cancer Institute (NCI) | ||||
| Verification Date | April 2008 | ||||
| First Received Date † | December 10, 1999 | ||||
| Last Updated Date | October 18, 2008 | ||||