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Mucopolysaccharidosis Type II Observational

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04591834
Recruitment Status : Withdrawn (Sponsor decision)
First Posted : October 19, 2020
Last Update Posted : October 10, 2022
Sponsor:
Information provided by (Responsible Party):
REGENXBIO Inc.

Study Description
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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.

Condition or disease Intervention/treatment
Mucopolysaccharidosis II Other: Observational

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 Design
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Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
Estimated Study Start Date : March 2022
Estimated Primary Completion Date : July 2025
Estimated Study Completion Date : July 2025

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Observational
No Intervention
 Other: Observational
An observational study in subjects with the severe form of MPS II.


Outcome Measures
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Primary Outcome Measures :
  1. Changes in neurodevelopmental parameters of cognitive function over time [ Time Frame: 104 weeks ]
    Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)

  2. Changes in neurodevelopmental parameters of cognitive function over time [ Time Frame: 104 weeks ]
    Mullen Scales of Early Learning (MSEL) Visual Reception Domain

  3. Changes in neurodevelopmental parameters of adaptive behavior function over time [ Time Frame: 104 weeks ]
    Vineland Adaptive Behavior Scales Second Edition (VABS-II)


Secondary Outcome Measures :
  1. Changes in disease-specific biomarkers over time [ Time Frame: 104 weeks ]
    I2S activity

  2. Changes in disease-specific biomarkers over time [ Time Frame: 104 weeks ]
    GAGs

  3. Changes in quality of life [ Time Frame: 104 weeks ]
    PedsQL

  4. Changes in quality of life [ Time Frame: 104 weeks ]
    ADL

  5. Changes in Caregiver reported outcome [ Time Frame: 104 weeks ]
    Family Burden of Illness Survey

  6. Changes in sleep [ Time Frame: 104 weeks ]
    SDSC


Eligibility Criteria
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Ages Eligible for Study:   1 Month to 8 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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.
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04591834


Locations
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United States, California
University of California San Francisco, Benioff Children's Hospital
Oakland, California, United States, 94609
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Canada, Quebec
McGill University Health Center
Montréal, Quebec, Canada, H4A 3J1
Sponsors and Collaborators
REGENXBIO Inc.
More Information
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Responsible Party: REGENXBIO Inc.
ClinicalTrials.gov Identifier: NCT04591834    
Other Study ID Numbers: RGX-121-9101
First Posted: October 19, 2020    Key Record Dates
Last Update Posted: October 10, 2022
Last Verified: October 2022

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Studies a U.S. FDA-regulated Device Product: No
Keywords provided by REGENXBIO Inc.:
MPS II
Gene Therapy
Hunter
Additional relevant MeSH terms:
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Mucopolysaccharidosis II
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
 Metabolic Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System