Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
NCT00046189 · ClinicalTrials.gov registry record
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
A clinical trial, sponsored by National Cancer Institute (NCI).
- Completed
- Registry status
- 301
- Enrollment target
NCT00046189: Completed study, sponsored by National Cancer Institute (NCI).
NCT00046189 is a clinical trial that has completed, run by National Cancer Institute (NCI). The registered enrollment target is 301 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00046189 has completed, sponsored by National Cancer Institute (NCI).
- COMPLETED
- Registry status
- 301 participants
- Enrollment target
Study Summary
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,
Primary Outcome
risk of any type of cancer, skin cancer and cancers of the nervous system are compared in the relatives who are heterozygotes for the XP mutations and relatives who do not carry the XP mutations by calculating the odds ratios
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 301 participants |
| Start Date | 2003-04-07 |
| Est. Completion | 2024-01-05 |
What the finished NCT00046189 record still lists
NCT00046189 is an observational study that tracks outcomes without assigning an intervention. The registered 301 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 0 interventions.
NCT00046189 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT00046189 about?
NCT00046189 is a clinical study titled "Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum". 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...
What is the current status of trial NCT00046189?
This trial is currently completed. The enrollment target is 301 participants. The study started on 2003-04-07. Estimated completion is 2024-01-05.
Who is sponsoring clinical trial NCT00046189?
This trial is sponsored by National Cancer Institute (NCI), which has 3,257 total clinical trials registered on ClinicalTrials.gov.
Learn More About Clinical Trials
Nationwide trials with similar profiles
Cross-condition peers matched on enrollment target and registry start date, not the same-condition list above.
Similar enrollment target
- NCT05005975 · 301 participants · Phase 3
Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
- NCT05722561 · 302 participants · Phase 2
E-Cigarettes for Harm Reduction in Smokers With Opioid Use Disorder
- NCT06015737 · 302 participants · Phase 3
A Phase III Study to Investigate the Efficacy and Safety of Anifrolumab in Adults With Chronic and/or Subacute Cutaneous Lupus Erythematosus
- NCT07176273 · 302 participants · NA
Adaptive Decision-making And Personalized Treatment for PTSD (ADAPT-PTSD)
Similar registry start date
- NCT05962346 · started 2026-12 · NA
Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia
- NCT07125183 · started 2026-12 · Phase 2
Study on Efficacy and Tolerability of Weekly Doxorubicin in Elderly Patients With Advanced or Metastatic Leiomyosarcoma
- NCT07292298 · started 2026-11 · Phase 2
Phase 2 Single-Arm Rectal Cancer Brachytherapy for Patients With Low-Lying Residual Adenocarcinoma After Total Neoadjuvant Therapy to Improve Organ Preservation Rates
- NCT04263285 · started 2026-10 · NA
Treatment of Depression Post-SCI