RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system. This study is a safety and efficacy, dose ranging study to determine whether RGX-121 is safe, effective and well-tolerated by patients with MPS II.
MPS II (Hunter Syndrome) 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 central nervous system (CNS) (neurocognition and behavior) involvement. RGX-121 is designed to deliver a functional gene to cells in the CNS. Iduronate-2-sulfatase (I2S) may then be secreted by transduced cells, which may then cross-correct non-transduced cells by taking up the functional enzyme. This is a Phase I/II/III study enrolling in two sequential parts. Part 1 is a Phase I/II, first-in-human, multicenter, open-label, single arm dose escalation study of RGX-121. Three one-time doses of RGX-121 will be studied in up to 16 pediatric subjects who have neuronopathic MPS II. Safety will be the primary focus for the initial 24 weeks after treatment (primary study period) whereupon, subjects will continue to be assessed (safety and efficacy) for up to a total of 104 weeks following treatment with RGX-121. Part 2 is a pivotal expansion, multicenter, open-label, single arm study of RGX-121. A single dose of RGX-121 will be studied in up to 30 pediatric patients who have been diagnosed with neuronopathic MPS II. Subjects will be assessed at various timepoints for 24 months after receiving RGX-121. Subjects will be given the opportunity to enroll in a separate 3-year long-term follow-up study in accordance with the US federal government guidelines for the safety follow-up of patients receiving gene therapy.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
48
Recombinant adeno-associated virus serotype 9 capsid containing human iduronate-2-sulfatase expression cassette
University of California San Francisco, Benioff Children's Hospital
Oakland, California, United States
St. Peter's University Hospital
New Brunswick, New Jersey, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders
Pittsburgh, Pennsylvania, United States
Part 1 Safety
Number of participants with treatment-related adverse events and serious adverse events as assessed by CTCAE (Version 4.03).
Time frame: 24 Weeks
Part 2 Biomarkers
CSF GAG levels (as measured by D2S6)
Time frame: 52 Weeks
Part 2 Biomarkers
CSF GAG levels (as measured by D2S6)
Time frame: 104 weeks
Part 2 Neurodevelopmental parameters
Neurodevelopmental function as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) or Mullen Scales of Early Learning (MSEL). The Bayley Scales of Infant Development, or the BSID-III is an individually administered test, designed to evaluate the developmental functioning of infants and small children, between 1 and 42 months of age. The purpose of the test is to identify infants and children with developmental delay. The Mullen Scales of Early Learning (MSEL) is a developmental test to measure cognitive ability, language and motor development. The test has five scales: gross motor, visual reception, fine motor, receptive language, and expressive language. An increase in raw and age equivalent scores indicates neurodevelopmental skill acquisition. Standard scores compare function to age matched normative data.
Time frame: 52 Weeks
Part 2 Neurodevelopmental parameters
Neurodevelopmental function as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) or Mullen Scales of Early Learning (MSEL). The Bayley Scales of Infant Development, or the BSID-III is an individually administered test, designed to evaluate the developmental functioning of infants and small children, between 1 and 42 months of age. The purpose of the test is to identify infants and children with developmental delay. The Mullen Scales of Early Learning (MSEL) is a developmental test to measure cognitive ability language and motor development. The test has five scales: gross motor, visual reception, fine motor, receptive language, and expressive language. An increase in raw and age equivalent scores indicates neurodevelopmental skill acquisition. Standard scores compare function to age matched normative data.
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Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, Brazil
Time frame: 104 weeks
Part 1 Safety
Number of participants with treatment-related adverse events as assessed by CTCAE (Version 4.03)
Time frame: 104 Weeks
Part 1 Biomarkers
Glycosaminoglycan levels and iduronate-2-sulfatase activity
Time frame: 104 Weeks
Part 1 Neurodevelopmental parameters
Neurodevelopment parameters of cognitive, behavioral \& adaptive function as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) or Kaufman Assessment Battery for Children, 2nd Edition (KABC-II) and Mullen Scales of Early Learning (MSEL). The BSID-III evaluates the developmental functioning of infants \& small children 1 to 42 months old to identify developmental delays. The KABC-II measures cognitive skill \& academic knowledge to evaluate knowledge acquired \& level of school learning attained. This test evaluates children 2.5 to 12.5 years old in 4 dimensions: mental, sequential and simultaneous processing, \& knowledge. The MSEL measures cognitive ability language \& motor development \& has 5 scales: gross \& fine motor, visual reception, \& receptive and expressive language. An increase in raw \& age equivalent scores indicates neurodevelopmental skill acquisition. Standard scores compare function to age matched normative data.
Time frame: 104 Weeks
Part 1 Change in neurodevelopmental parameters
Neurodevelopment parameters of cognitive, behavioral and adaptive function as measured by the Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II), Comprehensive Interview Form. The Vineland Adaptive Behavior Scale II (VABS-II) is a standardized paediatric functional assessment tool. The VABS-II offers a way to measure personal and social self-sufficiency in real-life situations and to observe how these cognitive abilities impact the autonomy management process when put into practice. The VABS-II consists in a semi-structured interview with the parents. Higher scores mean a better outcome.
Time frame: 104 Weeks
Part 2 Change in neurodevelopmental parameters
Change from baseline in neurodevelopment effect on daily living skills as measured by the Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II), Comprehensive Interview Form. The Vineland Adaptive Behavior Scale II (VABS-II) is a standardized paediatric functional assessment tool. The VABS-II offers a way to measure personal and social self-sufficiency in real-life situations and to observe how these cognitive abilities impact the autonomy management process when put into practice. The VABS-II consists in a semi-structured interview with the parents. Higher scores mean a better outcome.
Time frame: 52 Weeks
Part 2 Change in brain magnetic resonance imaging (MRI) parameters
Change from baseline in brain size as measured on MRI
Time frame: 52 Weeks
Part 2 Safety
Number of participants with treatment-related adverse events as assessed by CTCAE (Version 4.03)
Time frame: 24 Months
Part 2 Biomarkers
Change in Glycosaminoglycan levels and iduronate-2-sulfatase activity
Time frame: 24 Months