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NCT00001721 · ClinicalTrials.gov registry record
Study of Smith-Lemli-Opitz Syndrome
A clinical trial of Smith-Lemli-Opitz Syndrome, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- Completed
- Registry status
- 130
- Enrollment target
- 1
- Study location
NCT00001721: Completed study of Smith-Lemli-Opitz Syndrome, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
NCT00001721 is a study of Smith-Lemli-Opitz Syndrome that has completed, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 130 participants, below the 593-participant average among 4 other Smith-Lemli-Opitz Syndrome trials with a reported enrollment target (78% lower). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00001721, a study of Smith-Lemli-Opitz Syndrome, has completed, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- COMPLETED
- Registry status
- 130 participants
- Enrollment target
- 1
- Study location
Study Summary
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. \<TAB\> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? 2. \<TAB\> Do patients with SLOS have other problems concerning the function of their endocrine systems? 3. \<TAB\>What are the genetic make-ups of patients with SLOS? 4. \<TAB\>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?\<TAB\>
Primary Outcome
Stabilization
Conditions Studied
Interventions
- DRUG Cholesterol
- DRUG Cholesterol Suspension
- DRUG CRH
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 130 participants |
| Start Date | 1998-09-13 |
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)305 total trials
What the finished NCT00001721 record still lists
NCT00001721 is an observational study that tracks outcomes without assigning an intervention. The registered 130 participants enrollment target is mid-sized for trials with a published cap, below the 593-participant average among 4 other Smith-Lemli-Opitz Syndrome trials with a reported enrollment target (78% lower).
The record links to 1 condition, with Smith-Lemli-Opitz Syndrome appearing as the primary indexed condition, and to 3 interventions - of which Cholesterol is the first listed.
NCT00001721 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT00001721 about?
NCT00001721 is a clinical study titled "Study of Smith-Lemli-Opitz Syndrome". Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include;...
What is the current status of trial NCT00001721?
This trial is currently completed. The enrollment target is 130 participants. The study started on 1998-09-13.
What conditions does trial NCT00001721 study?
This clinical trial studies the following conditions: Smith-Lemli-Opitz Syndrome.
What interventions are being tested in trial NCT00001721?
The interventions under investigation include: Cholesterol (DRUG), Cholesterol Suspension (DRUG), CRH (DRUG).
Who is sponsoring clinical trial NCT00001721?
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 NCT00001721 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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