- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04591834
Mucopolysaccharidosis Type II Observational
October 6, 2022 updated by: REGENXBIO Inc.
A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
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.
Study Overview
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
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
Quebec
-
Montréal, Quebec, Canada, H4A 3J1
- McGill University Health Center
-
-
-
-
California
-
Oakland, California, United States, 94609
- University of California San Francisco, Benioff Children's Hospital
-
-
Pennsylvania
-
Philadelphia, Pennsylvania, United States, 19104
- Children's Hospital of Philadelphia
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 month to 8 years (Child)
Accepts Healthy Volunteers
No
Genders Eligible for Study
Male
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.
Description
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:
- 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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Other
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Observational
No Intervention
|
An observational study in subjects with the severe form of MPS II.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Changes in neurodevelopmental parameters of cognitive function over time
Time Frame: 104 weeks
|
Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
|
104 weeks
|
Changes in neurodevelopmental parameters of cognitive function over time
Time Frame: 104 weeks
|
Mullen Scales of Early Learning (MSEL) Visual Reception Domain
|
104 weeks
|
Changes in neurodevelopmental parameters of adaptive behavior function over time
Time Frame: 104 weeks
|
Vineland Adaptive Behavior Scales Second Edition (VABS-II)
|
104 weeks
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Changes in disease-specific biomarkers over time
Time Frame: 104 weeks
|
I2S activity
|
104 weeks
|
Changes in disease-specific biomarkers over time
Time Frame: 104 weeks
|
GAGs
|
104 weeks
|
Changes in quality of life
Time Frame: 104 weeks
|
PedsQL
|
104 weeks
|
Changes in quality of life
Time Frame: 104 weeks
|
ADL
|
104 weeks
|
Changes in Caregiver reported outcome
Time Frame: 104 weeks
|
Family Burden of Illness Survey
|
104 weeks
|
Changes in sleep
Time Frame: 104 weeks
|
SDSC
|
104 weeks
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Anticipated)
March 1, 2022
Primary Completion (Anticipated)
July 1, 2025
Study Completion (Anticipated)
July 1, 2025
Study Registration Dates
First Submitted
September 23, 2020
First Submitted That Met QC Criteria
October 12, 2020
First Posted (Actual)
October 19, 2020
Study Record Updates
Last Update Posted (Actual)
October 10, 2022
Last Update Submitted That Met QC Criteria
October 6, 2022
Last Verified
October 1, 2022
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Connective Tissue Diseases
- Carbohydrate Metabolism, Inborn Errors
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Mucinoses
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Mucopolysaccharidosis II
- Mucopolysaccharidoses
Other Study ID Numbers
- RGX-121-9101
Drug and device information, study documents
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Mucopolysaccharidosis II
-
University of ChicagoNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsCompletedKrabbe Disease | Mucopolysaccharidosis Type II (MPS II) | Mucopolysaccharidosis Type I (MPS I) | Mucopolysaccharidosis Type III (MPS III) | Mucopolysaccharidosis Type VI (MPS VI)United States
-
University of MinnesotaNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsCompletedMucopolysaccharidosis Type I | Mucopolysaccharidosis Type II | Mucopolysaccharidosis Type VI | Mucopolysaccharidosis Type IV | Mucopolysaccharidosis Type VIIUnited States, Canada
-
REGENXBIO Inc.Active, not recruitingMucopolysaccharidosis Type II (MPS II)United States, Brazil
-
REGENXBIO Inc.Active, not recruitingMucopolysaccharidosis Type II (MPS II)United States, Canada
-
Lundquist Institute for Biomedical Innovation at...CompletedMucopolysaccharidosis Type I | Mucopolysaccharidosis Type II | Mucopolysaccharidosis Type VIUnited States
-
University Hospital HeidelbergCompletedMucopolysaccharidosis Type I | Mucopolysaccharidosis Type II | Coping Behavior | Mucopolysaccharidosis Type III | Behavior DisordersGermany
-
TakedaCompletedMucopolysaccharidosis (MPS)Brazil
-
JCR Pharmaceuticals Co., Ltd.Active, not recruitingMucopolysaccharidosis IIJapan
-
JCR Pharmaceuticals Co., Ltd.Completed
-
AO GENERIUMRecruitingMetabolic Diseases | Mucopolysaccharidosis Type IIRussian Federation
Clinical Trials on Observational
-
American Gastroenterological AssociationUniversity of Pennsylvania; University of California, San Diego; University of... and other collaboratorsRecruitingClostridium Difficile Infection | Gut Microbiome | Fecal Microbiota TransplantationUnited States, Canada
-
University of MinnesotaAgency for Healthcare Research and Quality (AHRQ)RecruitingTraumatic Brain Injury | Venous ThromboembolismUnited States
-
Massachusetts General HospitalRecruiting
-
Taysha Gene Therapies, Inc.Withdrawn
-
University Hospital, AntwerpUniversiteit AntwerpenUnknownType 1 Diabetes | Diastolic Dysfunction | Coronary Artery CalcificationsBelgium
-
St. Louis UniversityActive, not recruitingVertebral Artery StenosisUnited States
-
University Hospital, Basel, SwitzerlandCompletedPostoperative Complications | Intraoperative Complications | Patient Safety | Risk ManagementNew Zealand, Switzerland, United States, Netherlands, Spain, Austria, Turkey, United Kingdom, Australia, Greece, Ireland, Italy
-
University of Castilla-La ManchaRecruitingKnee OsteoarthritisSpain
-
AstraZenecaRecruiting
-
AstraZenecaRecruitingNon-Small Cell Lung CancerUnited States