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Study of Scaling Disorders and Other Inherited Skin Diseases
NCT00001292 · View on ClinicalTrials.gov ↗
Study Summary
The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones. Patients with inherited skin disorders, including Darier's disease (keratosis follicularis), lamellar ichthyosis, epidermolysis bullosa, cystic acne, and others, and their relatives may be eligible for this study. Patients will have a medical history, physical examination with particular emphasis on the skin, and routine blood tests. Additional procedures for patients and unaffected relatives may include: 1. Blood sample collection 2. Dental exam with X-ray of the jaw 3. Eye examination 4. X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs 5. Bone density scan 6. Photographs of the skin 7. Skin biopsies (removal of a small tissue sample under local anesthetic) 8. Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies Patients who request the results of their gene testing will be provided this information.
Conditions Studied
Study Locations (1)
Maryland
- National Cancer Institute (NCI) — Bethesda
Trial Details
| Field | Value |
|---|---|
| Start Date | 1992-02 |
| Est. Completion | 2001-04 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001292
The ClinicalTrials.gov registry entry for NCT00001292 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. An enrollment target was not published in the registry record, which is common for early-stage or observational entries. 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 3 conditions, with Lamellar Ichthyosis 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: NCT00001292 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 NCT00001292 about?
NCT00001292 is a clinical study titled "Study of Scaling Disorders and Other Inherited Skin Diseases". The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones. Patie...
What is the current status of trial NCT00001292?
This trial is currently completed. The study started on 1992-02. Estimated completion is 2001-04.
What conditions does trial NCT00001292 study?
This clinical trial studies the following conditions: Lamellar Ichthyosis, Genetic Skin Disease, Keratosis Follicularis. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00001292?
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 NCT00001292 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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