A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome

Study Overview
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Brief Summary
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This is a four-part prospective, multicenter, multiregional observational study of patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, to assess biomarkers potentially related to disease severity and/or treatment response and prospectively assess the progression of disease in participants with MPS II who are aged 2 through 10 years (Part 1), 2 through 30 years (Part 2), < 8 years (Part 3), and 6 to < 17 years (Part 4) at the time of enrollment.

Detailed Description
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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.).

Official Title
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A Prospective, Longitudinal Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome

Conditions
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Mucopolysaccharidosis II

Intervention / Treatment
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* Other: No Intervention


Participation Criteria
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Eligibility Criteria
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Key Inclusion Criteria (Part 1): Participants aged 2 through 10 years nMPS II subgroup: participants 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 Inclusion Criteria (Part 2): Participants aged 2 through 30 years nMPS 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 Key Inclusion Criteria (Part 3): nMPS II participants aged <8 years Key Inclusion Criteria (Part 4): nnMPS II participants aged 6 to 17 years Key Exclusion Criteria (All Parts): Have unstable medical condition that would make participation in the study unsafe or would interfere with necessary medical care Have received any central nervous system (CNS)-targeted MPS II investigational therapy within the previous 6 months

Ages Eligible for Study
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Maximum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Part 1<br>Participants from 2 through 10 years of age who have MPS II. Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted. | Other: No Intervention<br>* No Intervention<br>|
| Part 2<br>Participants from 2 through 30 years of age who have MPS II; Part 2 will entail a single collection of cerebrospinal fluid (CSF), urine, and blood. Clinical assessments are optional in Part 2. | Other: No Intervention<br>* No Intervention<br>|
| Part 3<br>Participants <8 years of age who have the neuronopathic form of mucopolysaccharidosis type II (nMPS II). Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted. | Other: No Intervention<br>* No Intervention<br>|
| Part 4<br>Participants 6 to 17 years of age with the non-neuronopathic form of mucopolysaccharidosis type II (nnMPS II). Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted. | Other: No Intervention<br>* No Intervention<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in adaptive behavior over time as measured by Vineland Adaptive Behavior Scales, Second Edition (VABS II) and/or Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) |  | Up to 96 weeks | 
| Changes in neurocognition over time as measured by Bayley Scales of Infant and Toddler Development, 3rd Edition; Kaufman Assessment Battery for Children, 2nd Edition; or Wechsler Intelligence Scale for Children, Fifth Edition |  | Up to 96 weeks | 
| Changes in levels of total urine glycosaminoglycans (GAGs), levels of heparan sulfate (HS) and dermatan sulfate (DS) in cerebrospinal fluid (CSF), urine and/or blood |  | up to 96 weeks | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MPS-II, Hunter Syndrome, Lysosomal Storage Disease, nMPS II, nnMPS II