Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Most MPS II patients will present with some degree of neurodevelopmental involvement, ranging from severe cognitive impairment and behavioral problems to mildly impaired cognition. This is an observational study; no investigational treatment will be administered. The primary objective of this study is to evaluate the neurodevelopmental status of pediatric patients with MPS II over time and to gain information to guide future treatment studies in this patient population.

Study Overview

• Status: Completed
• Conditions: Hunter Syndrome; Mucopolysaccharidosis (MPS)

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• Argentina
  • Buenos Aires
    • Pilar, Buenos Aires, Argentina, B1629ODT
      • Hospital Universitario Austral
• Mexico
  • Mexico City, Mexico, 04530
    • Instituto Nacional de Pediatría
• Spain
  • Madrid, Spain, 28009
    • Hospital Infantil Universitario
• United Kingdom
  • M13 9wl
    • Manchester, M13 9wl, United Kingdom
      • Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital
• United States
  • California
    • Oakland, California, United States, 94609
      • Childrens Hospital & Research Center Oakland
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Ann & Robert H. Lurie Children's Hospital of Chicago
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27514
      • University of North Carolina Division of Genetics and Metabolism

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Probability Sample

Study Population

Male MPS II patients between 2<18 years of age at time of informed consent

Description

Inclusion Criteria:

Patients must meet all of the following criteria to be considered eligible for enrollment:

1. a. The patient has a deficiency in iduronate-2-sulfatase enzyme activity AND b. The patient has a documented mutation in the iduronate-2-sulfatase gene. OR c. The patient has a normal enzyme activity level of one other sulfatase
2. The patient is male, and is at least 2 years of age and less than 18 years of age at the time of informed consent.
3. The patient must have sufficient auditory capacity at enrollment, with or without hearing aids, in the Investigator's judgment to complete the required protocol testing, and be compliant with wearing the aids on scheduled study visits.
4. The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent and/or assent form(s), as applicable.

Exclusion Criteria:

Patients who meet any of the following criteria will be excluded from the study.

1. The patient has clinically significant non-Hunter syndrome-related CNS involvement or medical or psychiatric comorbidity(ies) which, in the investigator's judgment, may interfere with the accurate administration and interpretation of protocol assessments, affect study data, or confound the integrity of study results.
2. The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
3. The patient is participating in an interventional clinical trial or has participated in an interventional clinical trial within 30 days prior to enrollment; participation in non interventional observational studies is permitted.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
No treatment; Observational non-treatment study

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II	24 months
Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II	24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quality of life		24 months
Reported adverse events	Type and severity measurements	24 months
Medication usage		24 months

Collaborators and Investigators

• Sponsor: Shire

Publications and helpful links

Helpful Links

• To obtain more information on the study, click here/on this link.

Study record dates

Study Major Dates

• Study Start (Actual): January 18, 2013
• Primary Completion (Actual): October 5, 2016
• Study Completion (Actual): October 5, 2016

Study Registration Dates

• First Submitted: March 12, 2013
• First Submitted That Met QC Criteria: April 1, 2013
• First Posted (Estimate): April 2, 2013

Study Record Updates

• Last Update Posted (Actual): March 17, 2021
• Last Update Submitted That Met QC Criteria: March 15, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Keywords: Cognitive impairment; Observational study; Neurodevelopmental Status; Pediatric Hunter syndrome patients; Central Nervous System (CNS) involvement
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Mucopolysaccharidosis II; Mucopolysaccharidoses
• Other Study ID Numbers: HGT-HIT-090

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.
• IPD Sharing Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/. For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR