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Mucopolysaccharidosis Type II Observational

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ClinicalTrials.gov Identifier: NCT04591834
Recruitment Status : Recruiting
First Posted : October 19, 2020
Last Update Posted : September 28, 2021
Sponsor:
Information provided by (Responsible Party):
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.

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.

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Study Type : Observational
Estimated Enrollment : 40 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 : September 2021
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : December 2024


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




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



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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

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


Contacts
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Contact: Patient Advocacy 866-860-0117 MPSII@regenxbio.com

Locations
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United States, California
University of California San Francisco, Benioff Children's Hospital Not yet recruiting
Oakland, California, United States, 94609
Contact: Dr. Paul Harmatz    925-639-6321    Jill.nicholas@ucsf.edu   
Principal Investigator: Dr. Paul Harmatz         
Children's Hospital of Orange County Recruiting
Orange, California, United States, 92868
Contact: Nina Movsesyan    714-509-3008    NMovsesyan@choc.org   
Principal Investigator: Raymond Wang, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Heather Bastinck    267-521-2355    bastinckh@chop.edu   
Principal Investigator: Dr. Can Ficicioglu         
Canada, Quebec
McGill University Health Center Recruiting
Montréal, Quebec, Canada, H4A 3J1
Contact: Dorothy McKelvey    514-934-1934 ext 23833    dorothy.mckelvey@muhc.mcgill.ca   
Principal Investigator: Dr. John Mitchell         
Sponsors and Collaborators
Regenxbio Inc.
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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: September 28, 2021
Last Verified: September 2021

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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