Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
NCT05047354
This study is recruiting at 1 US site in 1 state, according to its ClinicalTrials.gov record last updated .
Summary
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Smith Lemli Opitz Syndrome
- CHILD Syndrome
- Lathosterolosis
- Desmosterolosis
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Last updated on ClinicalTrials.gov
- August 17, 2026
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
Maryland · 1
- National Institutes of Health Clinical Center · Bethesda, MD
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.