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Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
NCT00046202 · View on ClinicalTrials.gov ↗
Study Summary
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll. Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis. Medical information will also be gathered from medical records, photographs, and X-rays.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 342 participants |
| Start Date | 2002-10-09 |
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)237 total trials
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00046202
The ClinicalTrials.gov registry entry for NCT00046202 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 342 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 237 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 Lysosomal Storage Disease 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: NCT00046202 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 NCT00046202 about?
NCT00046202 is a clinical study titled "Study of Inborn Errors of Cholesterol Synthesis and Related Disorders". This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with...
What is the current status of trial NCT00046202?
This trial is currently completed. The enrollment target is 342 participants. The study started on 2002-10-09.
What conditions does trial NCT00046202 study?
This clinical trial studies the following conditions: Lysosomal Storage Disease, Cholesterol Metabolism. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00046202?
This trial is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 237 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00046202 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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