Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
Public ClinicalTrials.gov record NCT01356420. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
The purpose of this study is to learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. SLOS can cause many health problems including slow growth and development, eating disorders, sleep disorders, behavior disorders, and eye diseases. Severe SLOS leads to birth defects and mental retardation and in many cases early death. The investigators plan to measure cholesterol and other sterol levels, perform clinical observations, whole body testing and imaging (brain MRIs), to learn more about the disease and its progression, differences in the clinical features among individuals with SLOS, and look at the effect of cholesterol supplementation in this condition. The study is an interventional study to characterize disease progression and correlations between clinical, biochemical and physiological features of the disease. The main hypothesis is that dietary cholesterol supplementation does not improve features of SLOS related to the brain (e.g. IQ, behavior).
Study identification
- NCT ID
- NCT01356420
- Recruitment status
- Terminated
- Study type
- Interventional
- Phase
- Not applicable
- Enrollment
- 21 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- Up to 85 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Dec 31, 2010
- Primary completion
- Nov 30, 2015
- Completion
- Nov 30, 2015
- Last update posted
- May 22, 2019
2011 – 2015
United States locations
- U.S. sites
- 5
- U.S. states
- 5
- U.S. cities
- 5
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Pdgen, Nichd, Nih, Dhhs | Bethesda | Maryland | 20892 | — |
| University of Nebraska Medical Center | Omaha | Nebraska | 68198 | — |
| Cincinnati Children'S Hospital Medical Center | Cincinnati | Ohio | 45229 | — |
| Oregon Health and Science University | Portland | Oregon | 97239 | — |
| Children'S Hospital of Pittsburgh of Upmc | Pittsburgh | Pennsylvania | 15213 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01356420, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted May 22, 2019 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01356420 live on ClinicalTrials.gov.