Mucopolysaccharidosis Type II Observational

study id #: NCT04591834

condition: Mucopolysaccharidosis II

status: Recruiting

purpose:

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.

intervention: Observational

results: https://clinicaltrials.gov/ct2/show/results/NCT04591834

last updated: February 26, 2022

start date: January 2022

estimated completion: July 2025

last updated: January 21, 2022

size / enrollment: 40

study 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.

primary outcomes:

• Changes in neurodevelopmental parameters of cognitive function over time
  Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
• 104 weeks
  Changes in neurodevelopmental parameters of cognitive function over time
  Mullen Scales of Early Learning (MSEL) Visual Reception Domain
• 104 weeks
  Changes in neurodevelopmental parameters of adaptive behavior function over time
  Vineland Adaptive Behavior Scales Second Edition (VABS-II)
• 104 weeks
  

secondary outcomes:

• Changes in disease-specific biomarkers over time
  104 weeks
• Changes in disease-specific biomarkers over time
  104 weeks
• Changes in quality of life
  104 weeks
• Changes in quality of life
  104 weeks
• Changes in Caregiver reported outcome
  104 weeks
• Changes in sleep
  104 weeks

inclusion criteria:

Inclusion Criteria:

Meets any of the following criteria:

Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR
Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR
Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype
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: Criteria:

Has had prior treatment with an AAV-based gene therapy product
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

sponsor: Regenxbio Inc.

contacts: Patient Advocacy, 866-860-0117, MPSII@regenxbio.com

trial center locations: United States,Canada

• United States, California
  University of California San Francisco, Benioff Children’s Hospital
  Dr. Paul Harmatz, 925-639-6321, Jill.nicholas@ucsf.edu
  
  
• United States, Pennsylvania
  Children’s Hospital of Philadelphia
  Diana Julca Aguinaga, 215-590-1427, julcad@chop.edu
  
  
• Canada, Quebec
  McGill University Health Center
  Dorothy McKelvey, 514-934-1934, dorothy.mckelvey@muhc.mcgill.ca