Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
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 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.
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\>
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
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001721
The ClinicalTrials.gov registry entry for NCT00001721 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 130 participants, a figure that helps gauge the scale of data the investigators plan to collect, below the 593-participant average among 4 other Smith-Lemli-Opitz Syndrome trials with a reported enrollment target (78% lower). The listed sponsor is Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total studies on file at ClinicalTrials.gov.
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 1 study location spanning 1 distinct geographic area - top geographies include 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.
Learn More About Clinical Trials
Similar trials for Smith-Lemli-Opitz Syndrome
Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.
-
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
RECRUITING · Phase 2
-
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
RECRUITING
-
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
COMPLETED · Phase 2
-
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
COMPLETED
Read our methodology - how this data is sourced, computed, and verified.
Related
Every figure on PlainTrial is rendered directly from the ClinicalTrials.gov registry, no number is typed in by an editor. This page mirrors this trial's own ClinicalTrials.gov registry record, live from the dataset. See our editorial standards & corrections policy, the methodology behind these numbers, or report a data error.