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Genetic Analysis of Patients With Pseudoxanthoma Elasticum
NCT00341419 · View on ClinicalTrials.gov ↗
Study Summary
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual. Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances. Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms. ...
Conditions Studied
Study Locations (1)
Maryland
- National Cancer Institute (NCI), 9000 Rockville Pike — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 188 participants |
| Start Date | 2005-02-16 |
| Est. Completion | 2013-05-14 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00341419
The ClinicalTrials.gov registry entry for NCT00341419 describes a study currently listed as completed. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 188 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Cancer Institute (NCI), which has 2,390 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 2 conditions, with Pseudoxanthoma Elasticum appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00341419 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00341419 about?
NCT00341419 is a clinical study titled "Genetic Analysis of Patients With Pseudoxanthoma Elasticum". This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in t...
What is the current status of trial NCT00341419?
This trial is currently completed. The enrollment target is 188 participants. The study started on 2005-02-16. Estimated completion is 2013-05-14.
What conditions does trial NCT00341419 study?
This clinical trial studies the following conditions: Pseudoxanthoma Elasticum, PXE. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00341419?
This trial is sponsored by National Cancer Institute (NCI), which has 2,390 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00341419 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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