Mucopolysaccharidosis Type II Observational

October 6, 2022 updated by: REGENXBIO Inc.

A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)

This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.

Study Overview

Status

Withdrawn

Intervention / Treatment

Detailed Description

MPS II is a rare X-linked recessive genetic disease caused by mutations in the iduronate-2-sulfatase gene (IDS). Enzyme replacement therapy (ERT) with recombinant idursulfase (ELAPRASE®) is the only approved product for the treatment of Hunter syndrome; however, ERT as currently administered does not cross the blood brain barrier and is therefore unable to address the unmet need in MPS II patients with CNS (neurocognition and behavior) involvement. This is an observational study to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care for their condition. Approximately forty pediatric subjects who have severe MPS II will be enrolled. Changes in neurodevelopmental parameters of cognitive, behavioral, and adaptive function over time will be the primary focus for a duration of 104 weeks.

Study Type

Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Quebec
      • Montréal, Quebec, Canada, H4A 3J1
        • McGill University Health Center
    • California
      • Oakland, California, United States, 94609
        • University of California San Francisco, Benioff Children's Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 month to 8 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

Up to 40 subjects ages 1 month to 8 years of age who have documented neurocognitive deficits due to MPS II or who have a genotype and family history consistent with an inherited form of severe MPS II will be invited to participate.

Description

Inclusion Criteria:

  1. Meets any of the following criteria:

    1. Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR
    2. Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR
    3. Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype
  2. Has sufficient communication capacity to complete the required protocol testing

Patient's legal guardian must be willing and able to provide written, signed informed consent.

Exclusion Criteria:

  1. Has had prior treatment with an AAV-based gene therapy product
  2. Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Observational
No Intervention
An observational study in subjects with the severe form of MPS II.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in neurodevelopmental parameters of cognitive function over time
Time Frame: 104 weeks
Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
104 weeks
Changes in neurodevelopmental parameters of cognitive function over time
Time Frame: 104 weeks
Mullen Scales of Early Learning (MSEL) Visual Reception Domain
104 weeks
Changes in neurodevelopmental parameters of adaptive behavior function over time
Time Frame: 104 weeks
Vineland Adaptive Behavior Scales Second Edition (VABS-II)
104 weeks

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in disease-specific biomarkers over time
Time Frame: 104 weeks
I2S activity
104 weeks
Changes in disease-specific biomarkers over time
Time Frame: 104 weeks
GAGs
104 weeks
Changes in quality of life
Time Frame: 104 weeks
PedsQL
104 weeks
Changes in quality of life
Time Frame: 104 weeks
ADL
104 weeks
Changes in Caregiver reported outcome
Time Frame: 104 weeks
Family Burden of Illness Survey
104 weeks
Changes in sleep
Time Frame: 104 weeks
SDSC
104 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

March 1, 2022

Primary Completion (Anticipated)

July 1, 2025

Study Completion (Anticipated)

July 1, 2025

Study Registration Dates

First Submitted

September 23, 2020

First Submitted That Met QC Criteria

October 12, 2020

First Posted (Actual)

October 19, 2020

Study Record Updates

Last Update Posted (Actual)

October 10, 2022

Last Update Submitted That Met QC Criteria

October 6, 2022

Last Verified

October 1, 2022

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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