start date: October 23, 2019
estimated completion: February 2024
last updated: January 24, 2022
size / enrollment: 28
study description: 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.
This clinical trial information was submitted voluntarily under the applicable law and, therefore, certain submission deadlines may not apply. (That is, clinical trial information for this applicable clinical trial was submitted under section 402(j)(4)(A) of the Public Health Service Act and 42 CFR 11.60 and is not subject to the deadlines established by sections 402(j)(2) and (3) of the Public Health Service Act or 42 CFR 11.24 and 11.44.).
primary outcomes:
- Glycosaminoglycan (GAG) levels, including within-patient and between-patient variability of GAG levels, in serum and urine of MPS II patients
- Up to 18 months
secondary outcomes:
- GAG levels in the cerebrospinal fluid (CSF) of MPS II patients
Up to 18 months
- Exploratory biomarkers, such as neurofilament light chain, lysosomal lipids/proteins, and cytokines, in patient CSF, urine, and/or blood
Up to 18 months
- Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II
Up to 18 months
- Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II as measured by Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II)
Up to 18 months
- Quality of Life parameters over time in patients with MPS II
Up to 18 months
- Quality of Life parameters over time in family members of patients with MPS II
Up to 18 months
- Adverse events related to study procedures
Up to 18 months
inclusion criteria:
• Eligible Ages: 2 - 30
• Eligible Sexes: all
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
