Mucopolysaccharidosis Type II Observational

• ClinicalTrials.gov Identifier: NCT04591834
• Recruitment Status: Withdrawn
• First Posted: October 19, 2020
• Last Update Posted: October 10, 2022
• Sponsor: REGENXBIO Inc.
• Information provided by (Responsible Party): REGENXBIO Inc.

Tracking Information

• First Submitted Date: September 23, 2020
• First Posted Date: October 19, 2020
• Last Update Posted Date: October 10, 2022
• Estimated Study Start Date: March 2022
• Estimated Primary Completion Date: July 2025 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: October 12, 2020)

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

• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: October 12, 2020)

• Changes in disease-specific biomarkers over time [ Time Frame: 104 weeks ]
  I2S activity
• Changes in disease-specific biomarkers over time [ Time Frame: 104 weeks ]
  GAGs
• Changes in quality of life [ Time Frame: 104 weeks ]
  PedsQL
• Changes in quality of life [ Time Frame: 104 weeks ]
  ADL
• Changes in Caregiver reported outcome [ Time Frame: 104 weeks ]
  Family Burden of Illness Survey
• Changes in sleep [ Time Frame: 104 weeks ]
  SDSC

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Mucopolysaccharidosis Type II Observational
• Official Title: A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
• 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.
• Study Type: Observational
• Study Design: Observational Model: Other; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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.
• Condition: Mucopolysaccharidosis II

Intervention

Other: Observational

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

Study Groups/Cohorts

Observational

No Intervention

Intervention: Other: Observational

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Withdrawn
• Actual Enrollment (submitted: October 6, 2022): 0
• Original Estimated Enrollment (submitted: October 12, 2020): 40
• Estimated Study Completion Date: July 2025
• Estimated Primary Completion Date: July 2025 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: Male

• Ages: 1 Month to 8 Years (Child)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: Canada, United States

Administrative Information

• NCT Number: NCT04591834
• Other Study ID Numbers: RGX-121-9101
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: REGENXBIO Inc.
• Original Responsible Party: Same as current
• Current Study Sponsor: REGENXBIO Inc.
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: REGENXBIO Inc.
• Verification Date: October 2022