Mucopolysaccharidosis Type II Observational

REGENXBIO Inc.

Overview

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.

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

Conditions

Mucopolysaccharidosis II

Interventions

ObservationalOTHER

An observational study in subjects with the severe form of MPS II.

Eligibility

Sex: MALEMin age: 1 MonthMax age: 8 Years

Medical Language ↔ Plain English

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

Locations (3)

University of California San Francisco, Benioff Children's Hospital

Oakland, California, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

McGill University Health Center

Montreal, Quebec, Canada

Outcomes

Primary Outcomes

Changes in neurodevelopmental parameters of cognitive function over time

Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)

Time frame: 104 weeks

Changes in neurodevelopmental parameters of cognitive function over time

Mullen Scales of Early Learning (MSEL) Visual Reception Domain

Time frame: 104 weeks

Changes in neurodevelopmental parameters of adaptive behavior function over time

Vineland Adaptive Behavior Scales Second Edition (VABS-II)

Time frame: 104 weeks

Secondary Outcomes

Changes in disease-specific biomarkers over time

I2S activity

Time frame: 104 weeks

Changes in disease-specific biomarkers over time

GAGs

Time frame: 104 weeks

Changes in quality of life

PedsQL

Time frame: 104 weeks

Changes in quality of life

ADL

Time frame: 104 weeks

Changes in Caregiver reported outcome

Family Burden of Illness Survey

Time frame: 104 weeks

Changes in sleep

SDSC

Time frame: 104 weeks

Data from ClinicalTrials.gov

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