Phase 2
Completed N=23
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Source: ClinicalTrials.gov NCT00272844 ↗
Enrolled (actual)
23
Serious AEs
0.0%
Results posted
Oct 2017
Primary outcomePrimary: Number of Responders — 18 Participants
Summary
The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz syndrome.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Responders |
18 | — |
| SECONDARY Number of Growth Responders |
18 | — |
| SECONDARY Number of Participants With Improved Neuropsychological Development |
18 | — |
Eligibility Criteria
Inclusion Criteria
- Biochemical confirmation of sterol defect associated with Smith-Lemli-Opitz syndrome
Exclusion Criteria
- Inability to tolerate crystalline cholesterol
- Inability to travel to Boston 3-4 times/year based on age
Data sourced from ClinicalTrials.gov (NCT00272844). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.