Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
Study Purpose
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers, or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, including the skin, eye, nervous system, and bones. Patients have a more than thousand-fold increase in frequency in all major skin cancers. Parents of patients with XP are carriers of the abnormal XP gene. Other family members may also be carriers of the abnormal XP gene. Carriers do not develop the disease themselves; symptoms develop only in children who have inherited the faulty gene from both parents. This study will try to clarify the genetic basis for XP and to understand the increased frequency of cancer in the disease. XP patients who have been evaluated at the NIH Clinical Center and their relatives are eligible for this study. Newly diagnosed XP patients are also eligible. Spouses of relatives will also be included as control subjects. Patients and their family members will undergo some or all of the following procedures:
- - Parental permission to review the child s relevant medical records and pathology material from treatments or surgery for cancer or other related illnesses.
- - Medical history and physical examination, with particular attention to the skin and possible eye, hearing or neurological examinations.
- - Photographs to document skin and other physical findings.
- - Nuclear medicine scans to evaluate the brain and nervous system.
- - X-rays of the skull or other parts of the body.
- - Nervous system testing with an electroencephalogram (EEG), electroretinogram (ERG), electromyogram (EMG) or nerve conduction velocity measurement.
- - Collection of blood and skin samples for gene studies.
- - Establishment of cell lines from collected blood or tissues to study DNA repair, skin cancer, cancers related to XP, immune defects, and related studies.
- - Biopsy (surgical removal of a small piece of tissue) of suspicious skin lesions for examination under a microscope.
- - Collection of a cheek cell sample, obtained by twirling a soft brush against the inside of the cheek.
- - Collection of a hair sample for microscopic examination and composition analysis.
Recruitment Criteria
Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms |
No |
Study Type
An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies. |
Observational |
Eligible Ages | 1 Month - 99 Years |
Gender | All |
Trial Details
Trial ID:
This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries. |
NCT00046189 |
Phase
Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use. |
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Lead Sponsor
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data. |
National Cancer Institute (NCI) |
Principal Investigator
The person who is responsible for the scientific and technical direction of the entire clinical study. |
Kenneth H Kraemer, M.D. |
Principal Investigator Affiliation | National Cancer Institute (NCI) |
Agency Class
Category of organization(s) involved as sponsor (and collaborator) supporting the trial. |
NIH |
Overall Status | Active, not recruiting |
Countries | United States |
Conditions
The disease, disorder, syndrome, illness, or injury that is being studied. |
Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma, Melanoma, Skin Cancer |
Study Website: | View Trial Website |
Contact a Trial Team
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