Sanfilippo syndrome (Mucopolysaccharidosis III) MedDRA version: 20.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 100000004850
Conditions
Interventions
Product Name: Genistein aglycone
Product Code: 500 0500 0
Pharmaceutical Form: Oral powder
INN or Proposed INN: Genistein aglycone
CAS N
Sponsors
Manchester University NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: •Written informed consent of a legally authorised guardian(s); • Aged between 2 and 15 years of age (inclusive), at the time of informed consent; • The patient must be able to walk unaided; • The patient must have confirmed MPS III A ,B or C with: a fibroblast or leukocyte HeparanNsulphatase (HNS) or Nalphaacetylglucosaminidase (NAGLU) or HeparanalphaglucosaminideNAcetyltransferase (HGSNAT) activity level of less than 10% of the lower limit of the normal range, or below the detection range of the measuring laboratory or have HNS or NAGLU; AND/OR • HGSNAT mutations known to be pathogenic; •A clinical diagnosis of MPS III. Are the trial subjects under 18? yes Number of subjects for this age range: 24 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range 0 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range 0
Exclusion criteria
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary 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;Secondary Objective: Following 52 weeks of treatment are there changes in urinary GAG excretion; urine and plasma heparan sulphate; neuropsychological measures; actigraphy.;Primary end point(s): The primary endpoint will be CSF heparan sulphate at 52 weeks, adjusted for baseline, in patients allocated to drug compared with patients allocated to placebo.;Timepoint(s) of evaluation of this end point: CSF samples will be collected at weeks 0, 52 and analysed. They will also be collected and analysed following the 52 week open label phase. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Urinary GAG excretion at 52 weeks. Urinary and plasma heparan sulphate at 52 weeks. Neuropsychological measures, including the Vineland adaptive behaviour Questionnaire; Connors questionnaire; Bayley scale III; and MPS III symptom checklist at 52 weeks. Actigraphy at 52 weeks. ;Timepoint(s) of evaluation of this end point: These endpoints will be evaluated at 0 and 52 weeks, and following the 52 week open label phase | — |
Countries
United Kingdom
Contacts
Public ContactLynne Webster
Manchester University NHS Foundation Trust
Outcome results
None listed