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Sponsored by: |
National Cancer Institute (NCI) |
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Information provided by: | National Cancer Institute (NCI) |
ClinicalTrials.gov Identifier: | NCT00004044 |
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.
Condition | Intervention |
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Head and Neck Cancer Intraocular Melanoma Melanoma (Skin) Non-Melanomatous Skin Cancer Precancerous/Nonmalignant Condition |
Procedure: DNA ploidy analysis Procedure: mutation analysis |
Study Type: | Observational |
Official Title: | Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy |
Estimated Enrollment: | 250 |
Study Start Date: | June 2000 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
DISEASE CHARACTERISTICS:
PATIENT CHARACTERISTICS:
Age:
Performance status:
Hematopoietic:
Hepatic:
Renal:
PRIOR CONCURRENT THERAPY:
Biologic therapy
Chemotherapy
Endocrine therapy
Radiotherapy
Surgery
United States, Maryland | |
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office | Recruiting |
Bethesda, Maryland, United States, 20892-1182 | |
Contact: Clinical Trials Office - Warren Grant Magnusen Clinical Center 888-NCI-1937 | |
Israel | |
Sackler Faculty of Medicine | Recruiting |
Tel-Aviv, Israel, 69978 | |
Contact: Hanoch Slor, MD 972-3-545-9657 | |
Turkey | |
Inonu University School of Medicine | Recruiting |
Malatya, Turkey | |
Contact: Engin Gozukara, PhD, MD 90-422-341-0045 | |
Yuzuncu Yil University School of Medicine | Recruiting |
Van, Turkey, 65200 | |
Contact: Ahmet Metin, MD 90-432-216-7325 |
Study Chair: | Kenneth H. Kraemer, MD | NCI - Basic Research Laboratory |
Study ID Numbers: | CDR0000067084, NCI-99-C-0099 |
Study First Received: | December 10, 1999 |
Last Updated: | December 23, 2008 |
ClinicalTrials.gov Identifier: | NCT00004044 |
Health Authority: | Unspecified |
basal cell carcinoma of the skin squamous cell carcinoma of the skin actinic keratosis iris melanoma ciliary body and choroid melanoma, medium/large size |
ciliary body and choroid melanoma, small size extraocular extension melanoma stage I melanoma stage I squamous cell carcinoma of the lip and oral cavity |
Dwarfism Keratosis Photosensitivity Disorders Precancerous Conditions Squamous cell carcinoma Neurodegenerative Diseases Bone Diseases Melanoma Uveal melanoma Cockayne's syndrome Heredodegenerative Disorders, Nervous System Musculoskeletal Diseases Intraocular melanoma Nevus, Pigmented Neoplasms, Germ Cell and Embryonal |
Trichothiodystrophy Carcinoma, squamous cell Bone Diseases, Developmental Abnormalities, Multiple Neuroepithelioma Congenital Abnormalities Skin Diseases, Genetic Xeroderma Pigmentosum Metabolic Diseases Skin Diseases Eye Neoplasms Eye Diseases Pigmentation Disorders Skin Abnormalities Carcinoma, Basal Cell |
Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Nerve Tissue |
DNA Repair-Deficiency Disorders Nervous System Diseases Nevi and Melanomas |