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Genestein and Sanfilippo Syndrome - A Review of the Evidence

RDR Staff
Published Online: Monday, Nov 11, 2013

Sanfilippo syndrome is caused by a deficiency in enzymes that degrade the glycosaminoglycan (GAG), heparan sulfate. The net result is an accumulation of heparan sulfate in lysosomes that leads  to progressive neurocognitive deterioration.  At present, there is no approved treatment for Sanfilippo syndrome but there is accumulating preclinical, clinical, as well as anecdotal evidence that genestein may be effective. Unfortunately, a properly controlled trial with manufactured grade genestein at a fixed high dose is needed to determine if the drug is safe and effective in these children. Fortunately, such a trial is about to begin.  

In this exclusive interview with Rare Disease Report, Brian Bigger, PhD, Lead of the Stem Cell & Neurotherapies Laboratory at the University of Manchester in Manchester U.K. explains why genestein may be effective in treating Sanfilippo and why (& how) they are about to start a  new phase 3 clinical trial examining the safety and efficacy of genistein aglycone in Sanfilippo syndrome. For more information about Sanfilippo and the trial, visit http://www.mpssociety.org.uk/research/latest-news/mps-iii-genistein-clinical-trial/. The trial is expected to begin in Spring 2014.


Extra reading
1.Kim KH, Dodsworth C, Paras A, Burton BK. High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab. 2013 Aug;109(4):382-5. 
2.de Ruijter J, Valstar MJ, Narajczyk M, Wegrzyn G, Kulik W, Ijlst L, Wagemans T, van der Wal WM, Wijburg FA. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol. 2012 Jan;71(1):110-20. 
3.Delgadillo V, O'Callaghan Mdel M, Artuch R, Montero R, Pineda M. Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis.  2011 Oct;34(5):1039-44.  Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A,et al. Two-year  follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. Med Sci Monit. 2011 Apr;17(4):CR196-202.
4.Malinowska M, Wilkinson FL, Langford-Smith KJ, et al.Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One. 2010 Dec 1;5(12):e14192 
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