Mucopolysaccharidosis Type II Observational

Mucopolysaccharidosis II Clinical Trial

Official title:

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

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT04591834
• Other study ID #: RGX-121-9101
• Status: Withdrawn
• Start date: March 2022
• Est. completion date: July 2025

Study information

• Verified date: October 2022
• Source: REGENXBIO Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: July 2025
• Est. primary completion date: July 2025
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 1 Month to 8 Years

Eligibility

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

Related Conditions & MeSH terms

• Mucopolysaccharidoses
• Mucopolysaccharidosis II

Intervention

Other:
• Observational
An observational study in subjects with the severe form of MPS II.

Locations

Country	Name	City	State
Canada	McGill University Health Center	Montréal	Quebec
United States	University of California San Francisco, Benioff Children's Hospital	Oakland	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
REGENXBIO Inc.

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in neurodevelopmental parameters of cognitive function over time	Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)	104 weeks
Primary	Changes in neurodevelopmental parameters of cognitive function over time	Mullen Scales of Early Learning (MSEL) Visual Reception Domain	104 weeks
Primary	Changes in neurodevelopmental parameters of adaptive behavior function over time	Vineland Adaptive Behavior Scales Second Edition (VABS-II)	104 weeks
Secondary	Changes in disease-specific biomarkers over time	I2S activity	104 weeks
Secondary	Changes in disease-specific biomarkers over time	GAGs	104 weeks
Secondary	Changes in quality of life	PedsQL	104 weeks
Secondary	Changes in quality of life	ADL	104 weeks
Secondary	Changes in Caregiver reported outcome	Family Burden of Illness Survey	104 weeks
Secondary	Changes in sleep	SDSC	104 weeks