Current avenues of gene therapy in Pompe disease.
Journal
Current opinion in neurology
ISSN: 1473-6551
Titre abrégé: Curr Opin Neurol
Pays: England
ID NLM: 9319162
Informations de publication
Date de publication:
01 10 2023
01 10 2023
Historique:
medline:
11
9
2023
pubmed:
28
8
2023
entrez:
28
8
2023
Statut:
ppublish
Résumé
Pompe disease is a rare, inherited, devastating condition that causes progressive weakness, cardiomyopathy and neuromotor disease due to the accumulation of glycogen in striated and smooth muscle, as well as neurons. While enzyme replacement therapy has dramatically changed the outcome of patients with the disease, this strategy has several limitations. Gene therapy in Pompe disease constitutes an attractive approach due to the multisystem aspects of the disease and need to address the central nervous system manifestations. This review highlights the recent work in this field, including methods, progress, shortcomings, and future directions. Recombinant adeno-associated virus (rAAV) and lentiviral vectors (LV) are well studied platforms for gene therapy in Pompe disease. These products can be further adapted for safe and efficient administration with concomitant immunosuppression, with the modification of specific receptors or codon optimization. rAAV has been studied in multiple clinical trials demonstrating safety and tolerability. Gene therapy for the treatment of patients with Pompe disease is feasible and offers an opportunity to fully correct the principal pathology leading to cellular glycogen accumulation. Further work is needed to overcome the limitations related to vector production, immunologic reactions and redosing.
Identifiants
pubmed: 37639402
doi: 10.1097/WCO.0000000000001187
pii: 00019052-990000000-00089
doi:
Substances chimiques
Glycogen
9005-79-2
Types de publication
Review
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
464-473Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL139708
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS116752
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS116824
Pays : United States
Organisme : NINDS NIH HHS
ID : P01 NS097197
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG066653
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG078702
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA266004
Pays : United States
Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Références
Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics 2018; 15:928–942.
Zern SC, Marshall WJ, Shewokis PA, Vest MT. Use of simulation as a needs assessment to develop a focused team leader training curriculum for resuscitation teams. Adv Simul (Lond) 2020; 5:6.
Fatehi F, Ashrafi MR, Babaee M, et al. Recommendations for infantile-onset and late-onset pompe disease: an Iranian consensus. Front Neurol 2021; 12:739931.
Fuller DD, Trejo-Lopez JA, Yachnis AT, et al. Case studies in neuroscience: neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease. J Neurophysiol 2021; 126:351–360.
Byrne BJ, Fuller DD, Smith BK, et al. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy. Ann Transl Med 2019; 7:290.
Korlimarla A, Lim JA, Kishnani PS, Sun B. An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. Ann Transl Med 2019; 7:289.
Smith BK, Allen S, Mays S, et al. Dynamic respiratory muscle function in late-onset Pompe disease. Sci Rep 2019; 9:19006.
El Haddad L, Lai E, Murthy PKL, et al. GAA deficiency disrupts distal airway cells in Pompe disease. AM J Physiol Lung Cell Mol Physiol 2023; [Epub ahead of print].
Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267–288.
Chien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009; 124:e1116–e1125.
Teener W. Late-onset Pompe's disease. Semin Neurol 2012; 32:506–511.
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68:99–109.
van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010; 362:1396–1406.
Scheffers LE, Kok R, van den Berg LE, et al. Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease. Int J Cardiol 2023; 380:65–71.
Cardone M, Porto C, Tarallo A, et al. Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics 2008; 1:6.
Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol 2021; 20:1012–1026.
Kishnani PS, Diaz-Manera J, Toscano A, et al. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 97 weeks: a phase 3 randomized clinical trial. JAMA Neurol 2023; 80:558–567.
Kishnani PS, Kronn D, Brassier A, et al. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: the 6-month primary analysis report. Genet Med 2023; 25:100328.
Parenti G, Fecarotta S, la Marca G, et al. A chaperone enhances blood alpha-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther 2014; 22:2004–2012.
Schoser B, Roberts M, Byrne BJ, et al. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol 2021; 20:1027–1037.
Kikuchi T, Yang HW, Pennybacker M, et al. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 1998; 101:827–833.
Elder ME, Nayak S, Collins SW, et al. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 2013; 163:847–854. e1.
Messinger YH, Mendelsohn NJ, Rhead W, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med 2012; 14:135–142.
Schoser B, Laforet P. Therapeutic thoroughfares for adults living with Pompe disease. Curr Opin Neurol 2022; 35:645–650.
Sun B, Brooks ED, Koeberl DD. Preclinical development of new therapy for glycogen storage diseases. Curr Gene Ther 2015; 15:338–347.
Gray SJ, Foti SB, Schwartz JW, et al. Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors. Hum Gene Ther 2011; 22:1143–1153.
Pacak CA, Sakai Y, Thattaliyath BD, et al. Tissue specific promoters improve specificity of AAV9 mediated transgene expression following intra-vascular gene delivery in neonatal mice. Genet Vaccines Ther 2008; 6:13.
Salva MZ, Himeda CL, Tai PW, et al. Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle. Mol Ther 2007; 15:320–329.
Sun B, Bird A, Young SP, et al. Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am J Hum Genet 2007; 81:1042–1049.
Colella P, Sellier P, Costa Verdera H, et al. AAV gene transfer with tandem promoter design prevents antitransgene immunity and provides persistent efficacy in neonate pompe mice. Mol Ther Methods Clin Dev 2019; 12:85–101.
Fraites TJ Jr, Schleissing MR, Shanely RA, et al. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Mol Ther 2002; 5 (Pt 1):571–578.
Mah C, Pacak CA, Cresawn KO, et al. Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. Mol Ther 2007; 15:501–507.
Smith BK, Collins SW, Conlon TJ, et al. Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther 2013; 24:630–640.
Corti M, Liberati C, Smith BK, et al. Safety of intradiaphragmatic delivery of adeno-associated virus-mediated alpha-glucosidase (rAAV1-CMV-hGAA) gene therapy in children affected by Pompe disease. Hum Gene Ther Clin Dev 2017; 28:208–218.
Elmallah MK, Falk DJ, Nayak S, et al. Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in Pompe mice. Mol The 2014; 22:702–712.
Sun B, Zhang H, Benjamin DK Jr, et al. Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid α-glucosidase in glycogen storage disease type II. Mol Ther 2006; 14:822–830.
Sun B, Zhang H, Franco LM, et al. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther 2005; 11:889–898.
Eggers M, Vannoy CH, Huang J, et al. Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. EMBO Mol Med 2022; 14:e13968.
Franco LM, Sun B, Yang X, et al. Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther 2005; 12:876–884.
Sun B, Li S, Bird A, et al. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease. J Gene Med 2010; 12:881–891.
Han SO, Li S, Brooks ED, et al. Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockade. Hum Gene Ther 2015; 26:26–35.
Falk DJ, Mah CS, Soustek MS, et al. Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. Mol Ther 2013; 21:1661–1667.
Doerfler PA, Todd AG, Clément N, et al. Copackaged AAV9 vectors promote simultaneous immune tolerance and phenotypic correction of Pompe disease. Hum Gene Ther 2016; 27:43–59.
Todd AG, McElroy JA, Grange RW, et al. Correcting neuromuscular deficits with gene therapy in Pompe disease. Ann Neurol 2015; 78:222–234.
Keeler AM, Zieger M, Todeasa SH, et al. Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease. Hum Gene Ther 2019; 30:57–68.
Gonzalez TJ, Simon KE, Blondel LO, et al. Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing. Nat Commun 2022; 13:5947.
Hordeaux J, Ramezani A, Tuske S, et al. Immune transgene-dependent myocarditis in macaques after systemic administration of adeno-associated virus expressing human acid alpha-glucosidase. Front Immunol 2023; 14:1094279.
Kyosen SO, Iizuka S, Kobayashi H, et al. Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction. Gene Ther 2010; 17:521–530.
Doyle BM, Turner SMF, Sunshine MD, et al. AAV gene therapy utilizing glycosylation-independent lysosomal targeting tagged GAA in the hypoglossal motor system of Pompe mice. Mol Ther Methods Clin Dev 2019; 15:194–203.
Lim JA, Yi H, Gao F, et al. Intravenous injection of an AAV-PHP.B vector encoding human acid α-glucosidase rescues both muscle and CNS defects in murine Pompe disease. Mol Ther Methods Clin Dev 2019; 12:233–245.
Astellas announces update on preliminary safety and efficacy data from FORTIS study of investigational AT845 in adults with late-onset Pompe disease. Available at: https://www.prnewswire.com/news-releases/astellas-announces-update-on-preliminary-safety-and-efficacy-data-from-fortis-study-of-investigational-at845-in-adults-with-late-onset-pompe-disease-301750884.html .
Astellas announces FDA update on the FORTIS clinical trial of AT845 in adults with late-onset pompe disease. 2022; Available at: https://www.astellas.com/en/news/25956 .
Astellas announces hold lifted by FDA on FORTIS clinical trial of AT845 investigational treatment for adult patients with late-onset Pompe disease. 2023. Available at: https://www.astellas.com/en/news/26931 .
Mingozzi F, Liu YL, Dobrzynski E, et al. Induction of immune tolerance to coagulation factor IX antigen by in vivo hepatic gene transfer. J Clin Invest 2003; 111:1347–1356.
Tiegs G, Lohse AW. Immune tolerance: what is unique about the liver. J Autoimmun 2010; 34:1–6.
Ziegler RJ, Bercury SD, Fidler J, et al. Ability of adeno-associated virus serotype 8-mediated hepatic expression of acid α-glucosidase to correct the biochemical and motor function deficits of presymptomatic and symptomatic Pompe mice. Hum Gene Ther 2008; 19:609–621.
Puzzo F, Colella P, Biferi MG, et al. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid a-glucosidase. Sci Transl Med 2017; 9:eaam6375.
Zhang P, Sun B, Osada T, et al. Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine Pompe disease. Hum Gene Ther 2012; 23:460–472.
Han SO, Ronzitti G, Arnson B, et al. Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction. Mol Ther Methods Clin Dev 2017; 4:126–136.
Pope MK, Coleman K, Wichman M, et al. Assessment of gene therapy treatment in the Pompe disease canine model. Mol Ther 2022; 30 (S1):2022.
Smith EC, Hopkins S, Case LE, et al. Phase I study of liver depot gene therapy in late-onset Pompe disease. Mol Ther 2023; 37:1994–2004.
A gene transfer study for late onset Pompe disease (RESOLUTE). Available at: https://clinicaltrials.gov/ct2/show/NCT02240407 .
Gombash SE, Cowley CJ, Fitzgerald JA, et al. Intravenous AAV9 efficiently transduces myenteric neurons in neonate and juvenile mice. Front Mol Neurosci 2014; 7:81.
Foust KD, Nurre E, Montgomery CL, et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol 2009; 27:59–65.
Salabarria SM, Nair J, Clement N, et al. Advancements in AAV-mediated gene therapy for Pompe disease. J Neuromusc Dis 2020; 7:15–31.
Hordeaux J, Dubreil L, Robveille C, et al. Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease. Acta Neuropathol Commun 2017; 5:66.
Qiu K, Falk DJ, Reier PJ, et al. Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice. Mol Ther 2012; 20:21–27.
Smith BK, Martin AD, Lawson LA, et al. Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: clinical evidence of respiratory plasticity. Exp Neurol 2017; 287 (Pt 2):216–224.
Singer ML, Rana S, Benevides ES, et al. Chemogenetic activation of hypoglossal motoneurons in a mouse model of Pompe disease. J Neurophysiol 2022; 128:1133–1142.
Biffi A. Hematopoietic stem cell gene therapy for storage disease: current and new indications. Mol Ther 2017; 25:1155–1162.
Douillard-Guilloux G, Richard E, Batista L, Caillaud C. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease. J Gene Med 2009; 11:279–287.
van Til NP, Stok M, Aerts Kaya FS, et al. Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood 2010; 115:5329–5337.
Kan SH, Aoyagi-Scharber M, Le SQ, et al. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. Proc Natl Acad Sci USA 2014; 111:14870–14875.
Eichler F, Duncan C, Musolino PL, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med 2017; 377:1630–1638.
Thompson AA, Walters MC, Kwiatkowski J, et al. Gene therapy in patients with transfusion-dependent beta-thalassemia. N Engl J Med 2018; 378:1479–1493.
Ferrua F, Cicalese MP, Galimberti S, et al. Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a nonrandomised, open-label, phase 1/2 clinical study. Lancet Haematol 2019; 6:e239–e253.
Stok M, de Boer H, Huston MW, et al. Lentiviral hematopoietic stem cell gene therapy corrects murine Pompe disease. Mol Ther Methods Clin Dev 2020; 17:1014–1025.
Braun CJ, Witzel M, Paruzynski A, et al. Gene therapy for Wiskott-Aldrich syndrome-long-term reconstitution and clinical benefits, but increased risk for leukemogenesis. Rare Dis 2014; 2:e947749.
Zufferey R, Dull T, Mandel RJ, et al. Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery. J Virol 1998; 72:9873–9880.
Liang Q, et al. IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy. Mol Ther Methods Clin Dev 2022; 27:109–130.
Dogan Y, et al. Screening chimeric GAA variants in preclinical study results in hematopoietic stem cell gene therapy candidate vectors for Pompe disease. Mol Ther Methods Clin Dev 2022; 27:464–487.
Liang Q, Catalano F, Vlaar EC, et al. Lentiviral gene therapy prevents antihuman acid α-glucosidase antibody formation in murine Pompe disease. Mol Ther Methods Clin Dev 2022; 25:520–532.
Lock M, Alvira M, Vandenberghe LH, et al. Rapid, simple, and versatile manufacturing of recombinant adeno-associated viral vectors at scale. Hum Gene Ther 2010; 21:1259–1271.
Rashnonejad A, Chermahini GA, Li S, et al. Large-scale production of adeno-associated viral vector serotype-9 carrying the human survival motor neuron gene. Mol Biotechnol 2016; 58:30–36.
Bertin B, Veron P, Leborgne C, et al. Capsid-specific removal of circulating antibodies to adeno-associated virus vectors. Sci Rep 2020; 10:864.
Lesch HP, Heikkilä KM, Lipponen EM, et al. Process development of adenoviral vector production in fixed bed bioreactor: from bench to commercial scale. Hum Gene Ther 2015; 26:560–571.
Powers AD, Piras BA, Clark RK, et al. Development and optimization of AAV hFIX particles by transient transfection in an iCELLis® fixed-bed bioreactor. Hum Gene Ther Methods 2016; 27:112–121.
Emmerling VV, Pegel A, Milian EG, et al. Rational plasmid design and bioprocess optimization to enhance recombinant adeno-associated virus (AAV) productivity in mammalian cells. Biotechnol J 2016; 11:290–297.
Grieger JC, Soltys SM, Samulski RJ. Production of recombinant adeno-associated virus vectors using suspension HEK293 cells and continuous harvest of vector from the culture media for GMP FIX and FLT1 clinical vector. Mol Ther 2016; 24:287–297.
Mendes JP, Fernandes B, Pineda E, et al. AAV process intensification by perfusion bioreaction and integrated clarification. Front Bioeng Biotechnol 2022; 10:1020174.
Guan JS, Chen K, Si Y, et al. Process improvement of adeno-associated virus (AAV) production. Front Chem Eng 2022; 4:830421.
Yu C, Trivedi PD, Chaudhuri P, et al. NaCl and KCl mediate log increase in AAV vector particles and infectious titers in a specific/timely manner with the HSV platform. Mol Ther Methods Clin Dev 2021; 21:1–13.
Trivedi PD, Yu C, Chaudhuri P, et al. Comparison of highly pure rAAV9 vector stocks produced in suspension by PEI transfection or HSV infection reveals striking quantitative and qualitative differences. Mol Ther Methods Clin Dev 2022; 24:154–170.
van der Loo JC, Wright JF. Progress and challenges in viral vector manufacturing. Hum Mol Genet 2016; 25 (R1):R42–R52.
Whiteley Z, Massaro G, Gkogkos G, et al. Microfluidic production of nanogels as alternative triple transfection reagents for the manufacture of adeno-associated virus vectors. Nanoscale 2023; 15:5865–5876.
Saeki R, Kobayashi S, Shimazui R, et al. Characterization of polypropyleneimine as an alternative transfection reagent. Anal Sci 2023; 39:1015–1020.
Neri M. AAV large scale manufacturing. Hum Gene Ther 2022.
Karbowniczek K, Extance J, Milsom S, et al. Doggybone DNA: an advanced platform for AAV production. Cell Gene Ther Insights 2017; 3:731–738.
Scarrott JM, Johari YB, Pohle TH, et al. Increased recombinant adeno-associated virus production by HEK293 cells using small molecule chemical additives. Biotechnol J 2023; 18:e2200450.
Cecchini S, Virag T, Kotin RM. Reproducible high yields of recombinant adeno-associated virus produced using invertebrate cells in 0.02-to 200-l cultures. Hum Gene Ther 2011; 22:1021–1030.
Wu Y, Jiang L, Geng H, et al. A recombinant baculovirus efficiently generates recombinant adeno-associated virus vectors in cultured insect cells and larvae. Mol Ther Methods Clin Dev 2018; 10:38–47.
Meier AF, Tobler K, Michaelsen K, et al. Herpes simplex virus 1 coinfection modifies adeno-associated virus genome end recombination. J Virol 2021; 95:e0048621.
Rumachik NG, Malaker SA, Poweleit N, et al. Methods matter: standard production platforms for recombinant AAV produce chemically and functionally distinct vectors. Mol Ther Method Clin Dev 2020; 18:98–118.
Clément N, Knop DR, Byrne BJ. Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies. Hum Gene Ther 2009; 20:796–806.
Farson D, Harding TC, Tao L, et al. Development and characterization of a cell line for large-scale, serum-free production of recombinant adeno-associated viral vectors. J Gene Med 2004; 6:1369–1381.
Thorne BA, Takeya RK, Peluso RW. Manufacturing recombinant adeno-associated viral vectors from producer cell clones. Hum Gene Ther 2009; 20:707–714.
Martin J, Frederick A, Luo Y, et al. Generation and characterization of adeno-associated virus producer cell lines for research and preclinical vector production. Hum Gene Ther Methods 2013; 24:253–269.
Verdera HC, Kuranda K, Mingozzi F. AAV vector immunogenicity in humans: a long journey to successful gene transfer. Mol Ther 2020; 28:723–746.
Salabarria SM, Norman S, Berthy J, et al. Systemic AAV delivery activates the classical complement pathway leading to thrombotic microangiopathy. Am Soc Gene Cell Ther 2021.
Earley J, Piletska E, Ronzitti G, Piletsky S. Evading and overcoming AAV neutralization in gene therapy. Trends Biotechnol 2022; 41:836–945.
Corti M, Cleaver B, Clément N, et al. Evaluation of readministration of a recombinant adeno-associated virus vector expressing acid alpha-glucosidase in Pompe disease: preclinical to clinical planning. Hum Gene Ther Clin Dev 2015; 26:185–193.
Leborgne C, Barbon E, Alexander JM, et al. IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies. Nat Med 2020; 26:1096–1101.
Zhu Y, Jiang JL, Gumlaw NK, et al. Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther 2009; 17:954–963.
Koeberl DD, Case LE, Smith EC, et al. Correction of biochemical abnormalities and improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease. Mol Ther 2018; 26:2304–2314.
Koeberl DD, Case LE, Desai A, et al. Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. Mol Genet Metab 2020; 129:67–72.
v van der Wal E, Bergsma AJ, Pijnenburg JM, et al. Antisense oligonucleotides promote exon inclusion and correct the common c.-32-13T>G GAA splicing variant in Pompe disease. Mol Ther Nucleic Acids 2017; 7:90–100.
Bergsma AJ, In ’t Groen SL, Verheijen FW, et al. From cryptic toward canonical PremRNA splicing in Pompe disease: a pipeline for the development of antisense oligonucleotides. Mol Ther Nucleic Acids 2016; 5:e361.
Lim JA, Li L, Shirihai OS, et al. Modulation of mTOR signaling as a strategy for the treatment of Pompe disease. EMBO Mol Med 2017; 9:353–370.
Raben N, Schreiner C, Baum R, et al. Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease. Autophagy 2010; 6:1078–1089.
Cohen JL, Chakraborty P, Fung-Kee-Fung K, et al. In utero enzyme-replacement therapy for infantile-onset Pompe's disease. N Engl J Med 2022; 387:2150–2158.
Clayton NP, Nelson CA, Weeden T, et al. Antisense oligonucleotide-mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of Pompe disease. Mol Ther Nucleic Acids 2014; 3:e206.
Fastman NM, Liu Y, Ramanan V, et al. The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex. Cell Rep 2022; 40:111041.
Maze therapeutics announces new clinical data supporting MZE001 as a potential treatment for Pompe disease. 2023. Available at: https://mazetx.com/maze-therapeutics-announces-new-clinical-data-supporting-mze001-as-a-potential-treatment-for-pompe-disease/ .
Baik AD, Calafati P, Zhang X, et al. Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies. Mol Ther 2021; 29:3512–3524.
Kishnani P, Lachmann R, Mozaffar T, et al. Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease. Mol Genet Metab 2019; 126 (Issue 2):S85–S86.