Prospective observational study of the use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLO)

• Conditions: Q87.1; Congenital malformation syndromes predominantly associated with short stature

• Registration Number: DRKS00015064
• Lead Sponsor: niversitätsklinikum Münster

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-10-17
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Enrolling by invitation
• Sex: All
• Target Recruitment: 7

Inclusion Criteria

Age 0 - 18 years
- SLO (Smith-Lemli-Optiz syndrome)
- previous use of another nutritional therapy of cholesterol (e.g. in oil, egg yolk, etc.)
- sufficient digestive activity or no strong intolerance to dietary fats

Exclusion Criteria

- Other diseases or metabolic disorders
- No previous supplementation of cholesterol
- Very critical health condition (e.g., intensive care)
- Persistent or constantly repeated vomiting
- severe problems in the utilization of dietary fats

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Serum cholesterol (mg/dL) before and after the new nutritional therapy.

Secondary Outcome Measures

Name	Time	Method
1. effect on the vitamin D balance (1,25-dihydroxycholecalciferol; 25-hydroxycholechalciferol)<br>2. change in LDL, HDL and/or triglycerides<br>3. effect on acid-base balance<br>4. health status (patient-specific, including evaluation of retrospective data for comparison) <br>5. patient/caregiver satisfaction