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Substrate Reduction Therapy for Smith-Lemli-Opitz Syndrome and Related Disorders

Abstract: Smith-Lemli-Opitz Syndrome (SLOS) is a rare autosomal recessive genetic disorder affecting the final step of cholesterol biosynthesis. SLOS is characterized by slow growth before and after birth, mental retardation, and multiple congenital disabilities. There is no FDA approved treatment for SLOS. Patients may benefit moderately from palliative...

Published: 4/8/2024 | Inventor(s): Forbes Porter, Francis Platt, Emyr Lloyd-Evans, Jin Zhi Zhang

Keywords(s): autosomal recessive disorder, Cholesterol Biosynthesis, Class II Amphiphile 7-dehydrocholesterol (7-DHC), Inhibitor of Sphingolipid Biosynthesis, NICHD, Niemann-Pick type C Disease, Porter, SLOS, Smith-Lemli-Opitz Syndrome

Category(s): Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Endocrinology