van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372(9646):1342–1353
Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O’Callaghan M (2006) Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 86(12):1208–1220
Article CAS PubMed Google Scholar
Meena NK, Raben N (2020) Pompe disease: new developments in an old lysosomal storage disorder. Biomolecules 10(9):1339
Article CAS PubMed PubMed Central Google Scholar
Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A (2020) An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease. Neuropathol Appl Neurobiol 46(4):359–374
Article CAS PubMed Google Scholar
van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 24(6):768-e31
van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, van Doorn PA, van der Ploeg AT, Stam H (2011) Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab 104(1–2):129–36
Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671–676
Kishnani PS, Chien YH, Berger KI, Thibault N, Sparks S (2024) Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease. Mol Genet Metab 143(1–2):108559
Article CAS PubMed Google Scholar
Daniel K-J, Aditi K, Gail AS, Walter W, Michael M, Gretchen N, Seung-Hye J, Angela S, Raymond YW, Aisha P, Chanika O, James MP, James SKP (2024) Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease. Mol Genet Metab 141(2):108119
Schüller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 160C(1):80–8
Giugliani R, Solomon F, Kushlaf H, Wright E, Haselkorn T, Zanoteli E, Schoser B (2025) Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review. Orphanet J Rare Dis 20(1):216
Article PubMed PubMed Central Google Scholar
Dangouloff T, Boemer F, Servais L (2021) Newborn screening of neuromuscular diseases. Neuromuscul Disord 31(10):1070–1080
Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS (2021) Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med 23(5):845–855
Article CAS PubMed PubMed Central Google Scholar
Desai AK, Li C, Rosenberg AS, Kishnani PS (2019) Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. Ann Transl Med 7(13):285
Article CAS PubMed PubMed Central Google Scholar
Chen HA, Hsu RH, Fang CY, Desai AK, Lee NC, Hwu WL, Tsai FJ, Kishnani PS, Chien YH (2024) Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy. Front Immunol 15:1336599
Article CAS PubMed PubMed Central Google Scholar
van der Beek N, Theunissen MTM, van den Hout JMP, Pijnappel WWM, Schoser B, Laforêt P, Parenti G, van Doorn PA, van der Ploeg AT (2025) Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease. Lancet Neurol 24(3):230–245
van der Beek N, Potters LH, Schoser B (2025) Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data. Curr Opin Neurol 38(5):538–545
Article PubMed PubMed Central Google Scholar
Leon-Astudillo C, Trivedi PD, Sun RC, Gentry MS, Fuller DD, Byrne BJ, Corti M (2023) Current avenues of gene therapy in Pompe disease. Curr Opin Neurol 36(5):464–473
Article CAS PubMed PubMed Central Google Scholar
Schoser B, van der Beek N, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel W, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT (2024) Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe consortium recommendation update 2024. Eur J Neurol 31(9):e16383
Article PubMed PubMed Central Google Scholar
Roger AL, Sethi R, Huston ML, Scarrow E, Bao-Dai J, Lai E, Biswas DD, El Haddad L, Strickland LM, Kishnani PS, ElMallah MK (2022) What’s new and what’s next for gene therapy in Pompe disease? Expert Opin Biol Ther 22(9):1117–1135
Article PubMed PubMed Central Google Scholar
NIH, Gene Transfer Study in Patients With Late Onset Pompe Disease (FORTIS).
Mozaffar T, Longo N, Walzer M, Steup A, Coats J, Hayashi C, Diaz-Manera J (2024) Two-year safety and exploratory efficacy of AT845 gene replacement therapy for late onset Pompe disease: FORTIS, a phase 1/2 open-label clinical study. Muscular Dystrophy Assoc Conf 2024:M238
Ma X, Zhuang L, Ma W, Li J, Mao Y, Wang J, Wang X, Xu J, Yu S, Gu R, Wang Y, Li Z, Jiang X, Zhang S, He F, Yang X, Zhu L, Zhang S, Zhang Y, Li T, Li Q, Wu Z, Zhang C, Zhang Y, Dong X, Xiong H, Wu X, Feng Z (2025) AAV9-mediated gene therapy for infantile-onset Pompe’s disease. N Engl J Med 392(24):2438–2446
Article CAS PubMed Google Scholar
Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD (2023) Phase I study of liver depot gene therapy in late-onset Pompe disease. Mol Ther 31(7):1994–2004
Article CAS PubMed PubMed Central Google Scholar
Al-Zaidy SA, Mendell JR (2019) From clinical trials to clinical practice: practical considerations for gene replacement therapy in SMA type 1. Pediatr Neurol 100:3–11
Kichula EA, Proud CM, Farrar MA, Kwon JM, Saito K, Desguerre I, McMillan HJ (2021) Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Muscle Nerve 64(4):413–427
Article PubMed PubMed Central Google Scholar
Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J (2020) Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101: Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM). Nervenarzt 91(6):518–529
Pipe SW, Reddy KR, Chowdary P (2022) Gene therapy: practical aspects of implementation. Haemophilia 28 Suppl 4(Suppl 4):44–52
Article PubMed PubMed Central Google Scholar
Miesbach W, Oldenburg J, Klamroth R, Eichler H, Koscielny J, Holzhauer S, Holstein K, Hovinga JAK, Alberio L, Olivieri M, Knöfler R, Male C, Tiede A (2023) [Gene therapy of Hemophilia: Recommendations from the German, Austrian, and Swiss Society for Thrombosis and Haemostasis Research (GTH)]. Hamostaseologie 43(3):196–207
Mendell JR, Proud C, Zaidman CM, Mason S, Darton E, Wang S, Wandel C, Murphy AP, Mercuri E, Muntoni F, McDonald CM (2024) Practical considerations for Delandistrogene Moxeparvovec gene therapy in patients with Duchenne muscular dystrophy. Pediatr Neurol 153:11–18
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS (2024) Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up.
Comments (0)