Sanfilippo syndrome (MPS III) comprises 4 closely related 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. Patients with MPS III usually die before the 3th decade. At present there is no causal therapy for patients with MPS III and treatment is symptomatic.
Conditions
Interventions
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
Sponsors
AMC Amsterdam
Eligibility
Inclusion criteria
Inclusion criteria: 1. The patient should have a biochemically confirmed deficiency of heparan-N-sulfatase (MPSIIIA), A-N-acetylglucosaminidase (MPS IIIB) or Acetyl CoA:Ą-glucosaminide N-acetyltransferase (MPS IIIC); 2. Patients should be able to walk soms steps independent and make some form of contact.
Exclusion criteria
Exclusion criteria: 1. The parent or legal representative is unwilling to participate; 2. Patient is already using Genestein; 3. Patient received an cord blood transplantation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Does genestein significantly decrease urinary GAGs (in particular heparan sulphate) excretion in Sanfilippo patients? | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Does genestein decrease serum heparan sulphate concentration? 2. Does genestein decrease accumulation of heparan sulphate in skin biopsies? 3. Does hair morphology improve in MPS III patients using genestein? 4. What is the effect of genestein on behaviour? 5. Does genestein improve cognitive function? | — |
Contacts
Public ContactF.A. Wijburg
Outcome results
None listed