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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00015064

Enrollment

Registered

2022-10-17

Start date

2019-02-12

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Q87.1

Interventions

Group 1: Use of a cholesterol emulsion

Eligibility

Sex/Gender

All

Age

0 Years to 18 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
Serum cholesterol (mg/dL) before and after the new nutritional therapy.	—

Secondary

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

Countries

Germany

Contacts

Public ContactTobias Fischer

Universitätsklinikum Münster

tobias.fischer@fh-muenster.de02518347758

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026