Skip to main content


for people ages up to 18 years (full criteria)
at Oakland, California and other locations
study started
estimated completion:
Paul Harmatz



This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervention or study drug is provided by BioMarin in this study.


Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B MPS IIIB MPS 3 B


You can join if…

Open to people ages up to 18 years

  • Have deficient NAGLU enzyme activity at Baseline. Blood for NAGLU enzyme activity will be collected and analyzed centrally.
  • Is up to 18 years of age
  • Written informed consent from parent or legal guardian and assent from subject, if required
  • Has the ability to comply with protocol requirements, in the opinion of the investigator

You CAN'T join if...

  • Has another neurological illness that may have caused cognitive decline (e.g., trauma,meningitis, or hemorrhage) before study entry
  • Has received stem cell, gene therapy, or enzyme replacement therapy for MPS IIIB
  • Has received any investigational medication within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study
  • Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with protocol requirements, the subject's wellbeing or safety, or the interpretability of the subject's clinical data.
  • Is currently participating in another natural history study


  • Medical Genetics Service/HCPA, Department of Genetics/UFRGS not yet accepting patients
    Pôrto Alegre, Rio Grande do Sul, 90035-903, Brazil
  • University Medical Center Hamburg-Eppendorf not yet accepting patients
    Hamburg, 20246, Germany
  • Hospital Clínico Universitario de Santiago not yet accepting patients
    Santiago de Compostela, A Coruña, 15706, Spain
  • MacKay Memorial Children's Hospital not yet accepting patients
    Taipei, 10449, Taiwan
  • Gazi University Faculty of Medicine not yet accepting patients
    Ankara, 06560, Turkey
  • Murdoch Childrens Research Institute and Royal Children's Hospital not yet accepting patients
    Melbourne, Victoria, 3052, Australia


not yet accepting patients
Start Date
Completion Date
BioMarin Pharmaceutical
Lead Scientist
Paul Harmatz
Study Type
Last Updated
July 1, 2017
I’m interested in this study!