The purpose of this study is to determine whether dietary cholic acid therapy benefits people
with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in serum cholesterol and
reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary
cholic acid for 8 weeks and serum cholesterol and cholesterol precursor metabolites will be
measured.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
University of Nebraska
Collaborators:
Children's Hospital Medical Center, Cincinnati University of Colorado, Denver University of Pittsburgh