Effect of Genestein as food supplement in patients with Sanfilippo syndrome.

Sanfilippo syndrome (MPS III) is an inborn errors of lysosomal degradation of the glycosaminoglycan heparan sulphate (GAGs). Accumulation of heparan sulfate, results in progressive and severe mental deterioration, which is the clinical hallmark of MPS III.
Genestein (an isoflavone) is a natural component of the soy-bean. Genistein inhibits GAGs synthesis in vitro and a recent small and open-label study suggested clinical relevant effects of genestein in MPS III patients.
In this study the use of genestein in MPS III patients will be compared to placebo.
The study consists of two periods of 6 months each with a wash-out period of 1 month in between. During one of the 6 months periods patients will receive Genestein as supplement (10 mg/kg). The other 6 months period patients will receive placebo.
During each study period patients will be studied for the effects of genestein on:
urinary GAG excretion, plasma heparansulfate, tissue (skin biopsy) concentration of heparansulfate, hair structure, cognitive state and behavioural abnormalities.

Genestein inhibits the synthesis of heparan sulphate and can possibly slow down disease progression in Sanfilippo Syndrome patients.

Baseline, 3 month, 6 months, 7 months, 10 months and 13 months and monthly urine samples.

The study consists of two periods of 6 months each with a wash-out period of 1 month in between. During one of the 6 months periods patients will receive Genestein as supplement (10 mg/kg). The other 6 months period patients will receive placebo.