A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

a study on Hunter Syndrome Mucopolysaccharidosis

Summary

Eligibility
for people ages 2-30 (full criteria)
Location
at Oakland, California and other locations
Dates
study started
estimated completion
Principal Investigator
by Paul Harmatz, MD

Description

Summary

This is an observational, Pre-phase 1 study of biomarkers in patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.

Details

This is a 2-part, prospective, multicenter, observational study of patients with MPS II to characterize disease-related biomarkers in urine, blood and cerebrospinal fluid (CSF). Part 1 will include MPS II patients who are 2 -10 years and Part 2 will include MPS II patients who are 2 -30 years old at the time of enrollment. All patients may be on approved therapies for MPS II; no investigational treatment will be administered.

Keywords

Hunter Syndrome MPS-II Mucopolysaccharidosis-II Lysosomal Storage Disease Mucopolysaccharidosis II Syndrome No Intervention

Eligibility

For people ages 2-30

Key Eligibility Criteria (Part 1):

  • Patients aged 2 through 10 years with a confirmed diagnosis of MPS II based on iduronate 2-sulfatase (IDS) enzyme activity and documented mutation in the IDS gene
  • Neuronopathic MPS II (nMPS II) subgroup: patients with a development quotient (DQ) <85 and/or a decline of at least 7.5 points in DQ, assessed at least 6 months apart, or with the same genetic mutation as a blood relative with confirmed nMPS II

Key Eligibility Criteria (Part 2):

  • Patients aged 2 through 30 years with a confirmed diagnosis of MPS II based on IDS enzyme activity and documented mutation in the IDS gene
  • Neuronopathic MPS II subgroup: patients with an age-adjusted DQ <85 and/or a decline of 10 points or more in DQ in the previous 6 months or more, or with the same genetic mutation as a blood relative with confirmed nMPS II
  • Scheduled to undergo general anesthesia or CSF sampling for non-study-related medical reasons and parent(s)/legally authorized representative consent to donate CSF for research purposes during that procedure, or an adult patient is able to provide consent and agrees to participation in the study for CSF collection/donation
  • No unstable medical conditions

Locations

  • UCSF Benioff Children's Hospital accepting new patients
    Oakland California 94609 United States
  • UPMC | Children's Hospital of Pittsburgh accepting new patients
    Pittsburgh Pennsylvania 15224 United States

Lead Scientist at UCSF

  • Paul Harmatz, MD
    Professor, Pediatrics. Authored (or co-authored) 193 research publications.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Denali Therapeutics Inc.
ID
NCT04007536
Study Type
Observational
Last Updated
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