- Alan Hubbs
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 care through an increase in dietary cholesterol to compensate for the endogenous block in cholesterol biosynthesis. However, dietary change offers only limited clinical benefit in mental improvement because the level of cholesterol or 7-DHC in the cerebrospinal fluid is not significantly improved.
Researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) are studying inhibitors of sphingolipid biosynthesis as a potential therapeutic for treating SLOS and related disorders. This substrate reduction therapy technology may include a compound, a method, a pharmaceutical composition, and an agent. The patents include claims for the use of nojirimycin derivatives to treat SLOS and diseases with a secondary Niemann-Pick type C disease like cellular phenotype. Of specific interest is the therapeutic use of N-butyldeoxynojirimycin (miglustat, available in FDA approved form as Zavesca®).
This technology is a part of the ongoing clinical program related to SLOS and is currently available for co-development or licensing.
- A therapy for Smith-Lemli-Opitz Syndrome (SLOS) and other diseases which has a secondary Niemann-Pick type C disease like cellular phenotype
- Potentially first-to-market in a disease with no treatment option
- Therapeutic option rather than palliative care
Forbes D. Porter (NICHD), Frances M. Platt (University of Oxford), Emyr Lloyd-Evans (University of Oxford)
- Discovery (Lead Identification)
Platt, F. et al. Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. [PMID 25184529]
- U.S. Patent Issued: U.S. Patent Number 8,557,844 , Issued 15 Oct 2013
- U.S. Patent Issued: U.S. Patent Number 9,428,541, Issued 30 Aug 2016
- Foreign Issued: Australia - Patent Number 2008269585, Issued 02 Jul 2015
- Foreign Issued: Canada - Patent Number 2691937, Issued 23 Jan 2018
- Foreign Filed: UK - Patent Application 0712494.4 , Filed 27 Jun 2007
- PCT: PCT Application Number PCT/GB2008/002207 , Filed 26 Jun 2008
- Foreign Filed: European - Patent Application 08762509.1, Filed 26 Jun 2008
- Hormonal Systems, Endocrine, and Metabolic Diseases