Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy

Annals of Translational Medicine
Barry J ByrneManuela Corti

Abstract

Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen accumulation in neurons and striated muscle. In the decade since availability of first-generation enzyme replacement therapy (ERT) a better understanding of the clinical spectrum of disease has emerged. The most severe form of early onset disease is typically identified with symptoms in the first year of life, known as infantile-onset Pompe disease (IOPD). Infants are described at floppy babies with cardiac hypertrophy in the first few months of life. A milder form with late onset (LOPD) of symptoms is mostly free of cardiac involvement with slower rate of progression. Glycogen accumulation in the CNS and skeletal muscle is observed in both IOPD and LOPD. In both circumstances, multi-system disease (principally motoneuron and myopathy) leads to progressive weakness with associated respiratory and feeding difficulty. In IOPD the untreated natural history leads to cardiorespiratory failure and death in the first year of life. In the current era of ERT clinical outcomes are improved, yet, many patients have an incomplete response and a substantial unmet need remains. Since the...Continue Reading

Citations

Dec 5, 2019·Journal of Neuromuscular Diseases·S M SalabarriaM Corti
May 28, 2020·International Journal of Molecular Sciences·Ana RicobarazaRuben Hernandez-Alcoceba
Sep 24, 2020·Biomolecules·Naresh K Meena, Nina Raben
Aug 11, 2020·Journal of Neuromuscular Diseases·Jens Reimann, Cornelia Kornblum
Feb 23, 2020·Der Nervenarzt·Diana Lehmann Urban, Ilka Schneider
Oct 20, 2020·International Journal of Neonatal Screening·Takaaki SawadaKimitoshi Nakamura
Oct 30, 2019·Molecular Therapy. Methods & Clinical Development·Brendan M DoyleDavid D Fuller
Dec 21, 2020·EBioMedicine·Rachel MyerowitzNina Raben
Dec 4, 2019·Molecular Genetics and Metabolism·Benjamin L FarahDwight D Koeberl
Feb 14, 2021·Neuroscience and Biobehavioral Reviews·Anthony Tucker-BartleyJaymin Upadhyay
Oct 5, 2021·EMBO Molecular Medicine·Antonietta TaralloGiancarlo Parenti
Nov 6, 2021·Nature Communications·Helena Costa-VerderaFederico Mingozzi

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