ArticleAmerican journal of medical genetics. Part A2017
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.Molecular genetics and metabolism · 2020Trial
- Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2025Article
- Targeting the central nervous system in lysosomal storage diseases: Strategies to deliver therapeutics across the blood-brain barrier.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Evolving therapies in neuronopathic LSDs: opportunities and challenges.Metabolic brain disease · 2022Review
- Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
- Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal.Molecular therapy. Methods & clinical development · 2021Article
- Evaluation of Traumatic Spinal Cord Injury in a Rat Model UsingMolecules (Basel, Switzerland) · 2021Article
- Review
- Mucopolysaccharidosis Type I.Diagnostics (Basel, Switzerland) · 2020Review
- Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.Animals : an open access journal from MDPI · 2020Article
- CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.Frontiers in molecular biosciences · 2020Review
- Targeted enzyme delivery systems in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis.Cellular and molecular life sciences : CMLS · 2019Review
- Review
- New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.Italian journal of pediatrics · 2018Review
- Enzyme replacement therapy: efficacy and limitations.Italian journal of pediatrics · 2018Review
- Mucopolysaccharidoses: overview of neuroimaging manifestations.Pediatric radiology · 2018Review
- Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.American journal of medical genetics. Part A · 2017Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient.© 2017 Wiley Periodicals, Inc.
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