High Dose Genistein in Sanfilippo Syndrome


Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

Full Study Name

A Phase III, Double Blinded, Randomised, Placebo Controlled Clinical Trial of High Dose Oral Genistein Aglycone in Patients with Sanfilippo Syndrome (Mucopolysaccharidosis III)

Study ID



Manchester University NHS Foundation Trust

Local Principal Investigator

Simon Jones

Study Status

Active but not recruiting

Main Aims

The objective of this trial is to evaluate oral genistein aglycone therapy in patients between 2 and 15 years old with MPS III A, B or C.

Inclusion Criteria
  • Aged between 2 and 15 years of age (inclusive), at the time of informed┬áconsent;
  • Clinical signs and symptoms of MPS IIIThe patient must be able to walk unaided;
  • The patient must have confirmed MPS III A ,B or C with EITHER
    • a fibroblast or leukocyte Heparan-N-sulphatase (HNS) or N-alpha-acetylglucosaminidase (NAGLU) or Heparan-alpha-glucosaminide-N-Acetyltransferase (HGSNAT) activity level of less than 10% of the lower limit of the normal range, or below the detection range of the measuring laboratory.
    • AND/OR HGSNAT, NAGLU or HNS mutations known to be pathogenic.
Exclusion Criteria
  • The patient has undergone bone marrow transplantation.
  • The patient is unable to participate in study activities in the opinion of the investigator.
  • The patient has a clinically significant organic disease (with the exception of symptoms relating to MPS III A or B or C) including: cardiovascular, hepatic, pulmonary, neurologic, or renal disease, other serious intercurrent illness, or extenuating circumstances that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival.
  • Patients that have had a change in psychotropic medication within one month of randomisation.
  • The patient receives any investigational medicinal product within 90 days prior to trial enrolment.
  • Patients should not have received genistein in any form for 30 days prior to enrolling into the study.
  • The patient has known hypersensitivity or adverse reactions to genistein.
  • A positive pregnancy test in a patient of childbearing potential.
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