for people ages 2-18 (full criteria)
at Oakland, California and other locations
study started
completion around
Principal Investigator
by Paul Harmatz, MD



This is a multicenter, open-label, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and exploratory clinical efficacy of DNL126 in participants with Sanfilippo syndrome Type A (MPS IIIA). The core study period is 25 weeks (approximately 6 months) and is followed by a 72-week (approximately 18 month) open-label extension (OLE).

Official Title

A Phase 1/2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)


Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome, MPS IIIA, Mucopolysaccharidoses, Mucopolysaccharidosis III, DNL126


You can join if…

Open to people ages 2-18

  • Confirmed diagnosis of MPS IIIA

You CAN'T join if...

  • Have unstable or poorly controlled medical condition(s) or significant medical or psychological comorbidity or comorbidities that, in the opinion of the investigator, would interfere with safe participation in the trial or interpretation of study assessments
  • Have lost the ability to walk independently, in the opinion of the investigator
  • Are unable to take the majority of nutrition via mouth, in the opinion of the investigator
  • Have used any CNS-targeted MPS IIIA enzyme replacement therapy (ERT) (eg, intrathecal SGSH or TfR-mediated SGSH delivery to CNS) within 3 months before Day 1
  • Have a prior history of hematopoietic stem cell transplantation
  • Have a prior history of gene therapy
  • Have used genistein within 30 days of screening or intended use of genistein during the study
  • Have a documented likely pathogenic mutation sufficient to cause disease (eg, taking into account zygosity) of other genes that are known to be associated with developmental delay, seizures, or other significant CNS disorders
  • Have clinically significant thrombocytopenia, other clinically significant coagulation abnormality, significant active bleeding, or require treatment with an anticoagulant or more than two antiplatelet agents
  • Contraindication for lumbar punctures
  • Contraindication for MRI scan
  • Have a clinically significant history of stroke, status epilepticus, head trauma with loss of consciousness, or any clinically significant CNS disease that is not MPS IIIA-related within 3 months of screening
  • Have had a ventriculoperitoneal (VP) shunt placed or a clinically significant VP shunt malfunction within 30 days of screening
  • Have any clinically significant CNS trauma or disorder, including severe untreated intracranial hypertension or brain surgery, that, in the opinion of the investigator, may interfere with assessment of study endpoints or make participation in the study unsafe


  • UCSF Benioff Children's Hospital Oakland accepting new patients
    Oakland California 94609 United States
  • Baylor College of Medicine and Texas Children's Hospita accepting new patients
    Houston Texas 77030 United States
  • University of Iowa Stead Family Children's Hospital accepting new patients
    Iowa City Iowa 52242 United States
  • University of North Carolina at Chapel Hill accepting new patients
    Chapel Hill North Carolina 27514 United States

Lead Scientist at UCSF


accepting new patients
Start Date
Completion Date
Denali Therapeutics Inc.
Phase 1/2 research study
Study Type
Expecting 8 study participants
Last Updated