Phase 2
N=23
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT00272844 ↗Enrolled (actual)
23
Serious AEs
0.0%
Results posted
Oct 2017
Primary outcome: Primary: Number of Responders — 18 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- crystalline cholesterol oil-based suspension (Drug)
- Age
- Pediatric, Adult, Older Adult
- Sex
- All
- Sponsor
- Boston Children's Hospital
- Primary completion
- Jun 2011
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 | — |
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.
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.