Mucopolysaccharidosis Type II Observational

Withdrawn

• Conditions: Mucopolysaccharidosis II
• Interventions: Other: Observational

• Registration Number: NCT04591834
• Lead Sponsor: REGENXBIO Inc.

Brief Summary

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.

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 Timeline

• Study First Submitted: 2020-09-23
• Study First Submitted QC: 2020-10-12
• Study First Posted: 2020-10-19
• Study Start: 2022-03
• Status Verified: 2022-10
• Last Update Submitted: 2022-10-06
• Last Update Posted: 2022-10-10
• Primary Completion: 2025-07
• Study Completion: 2025-07

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: Male
• Target Recruitment: Not specified

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.

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Observational	Observational	No Intervention

Primary Outcome Measures

Name	Time	Method
Changes in neurodevelopmental parameters of cognitive function over time	104 weeks	Mullen Scales of Early Learning (MSEL) Visual Reception Domain
Changes in neurodevelopmental parameters of adaptive behavior function over time	104 weeks	Vineland Adaptive Behavior Scales Second Edition (VABS-II)

Secondary Outcome Measures

Name	Time	Method
Changes in sleep	104 weeks	SDSC
Changes in Caregiver reported outcome	104 weeks	Family Burden of Illness Survey
Changes in quality of life	104 weeks	ADL
Changes in disease-specific biomarkers over time	104 weeks	GAGs

Trial Locations

Locations (3)

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

University of California San Francisco, Benioff Children's Hospital; 🇺🇸 Oakland, California, United States

McGill University Health Center; 🇨🇦 Montréal, Quebec, Canada