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NCT00046202 · ClinicalTrials.gov registry record
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
A clinical trial of Lysosomal Storage Disease and Cholesterol Metabolism, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- Completed
- Registry status
- 342
- Enrollment target
- 1
- Study location
NCT00046202: Completed study of Lysosomal Storage Disease and Cholesterol Metabolism, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
NCT00046202 is a study of Lysosomal Storage Disease and Cholesterol Metabolism that has completed, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 342 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00046202, a study of Lysosomal Storage Disease and Cholesterol Metabolism, has completed, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- COMPLETED
- Registry status
- 342 participants
- Enrollment target
- 1
- Study location
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.
Primary Outcome
collect sample to study rare manifestations or disease
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)305 total trials
What the finished NCT00046202 record still lists
NCT00046202 is an observational study that tracks outcomes without assigning an intervention. The registered 342 participants enrollment target is mid-sized for trials with a published cap.
The record links to 2 conditions, with Lysosomal Storage Disease appearing as the primary indexed condition, and to 0 interventions.
NCT00046202 reports a single indexed study location in Maryland.
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.
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 305 total clinical trials registered on ClinicalTrials.gov.
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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