Mucopolysaccharidosis Type II Observational

NCT ID: NCT04591834

Last Updated: 2022-10-10

Basic Information

• Recruitment Status: WITHDRAWN
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-03-31
• Study Completion Date: 2025-07-31

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.

Conditions

Mucopolysaccharidosis II

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Observational

No Intervention

Observational

Intervention Type: OTHER

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

Interventions

Observational

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

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 8 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

REGENXBIO Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

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

Countries

United States; Canada

Other Identifiers

RGX-121-9101

Identifier Type: -

Identifier Source: org_study_id