Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G

Therapeutic advances in rare disease, 2026

doi: 10.1177/26330040261425686

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien YH, Han M, Heuterman J, Sparks S, Glen C, Daba N

Frontiers in immunology, 2025

doi: 10.3389/fimmu.2025.1690312

A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.

Faraguna MC, Crescitelli V, Bonanomi S, Kullmann GA, Boffi ML, Pretese R, Risca G, Tedesco LM, Pozzi K, Serafini M, van den Hout JM, van der Ploeg AT, Balduzzi AC, Gasperini S

Current opinion in immunology, 2026 Jan 22

doi: S0952-7915(26)00002-6

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel WWMP, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2025 Dec 15

doi: 10.1007/s40259-025-00760-y

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel PWWM, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2025 Nov 24

doi: 10.1007/s40259-025-00757-7

Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla C NMR spectroscopy.

Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J

Journal of neurology, neurosurgery, and psychiatry, 2025 Oct 15

doi: 10.1136/jnnp-2025-336628

Elucidating the role of human skeletal muscles in the pathogenesis of enterovirus D68 infection.

Laksono BM, Bergsma AJ, Iuliano A, Veldhoen DY, van Nieuwkoop S, Boter M, Leijten L, Bauer L, Oude Munnink BB, Pijnappel WP, van Riel D

Life science alliance, 2025 Nov

doi: 10.26508/lsa.202503372

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Kishnani PS, Díaz-Manera J, Illarioshkin S, van der Ploeg AT, Clemens PR, Day JW, Toscano A, Kushlaf H, Ladha S, Attarian S, Carvalho G, Kostera-Pruszczyk A, Erdem-Özdamar S, Goker-Alpan O, Mozaffar T, Straub V, Roberts M, Haack KA, Huynh-Ba O, Tammireddy S, Periquet M, Thibault N, Zhou T, Dimachkie MM, Schoser B,

Journal of neurology, 2025 Aug 16

doi: 10.1007/s00415-025-13266-y

Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.

Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT

Journal of neurology, 2025 Jul 31

doi: 10.1007/s00415-025-13147-4

Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data.

van der Beek NAME, Potters LH, Schoser B

Current opinion in neurology, 2025 Jun 06

doi: 10.1097/WCO.0000000000001385

Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.

van der Beek NAME, Theunissen MTM, van den Hout JMP, Pijnappel WWM, Schoser B, Laforêt P, Parenti G, van Doorn PA, van der Ploeg AT

The Lancet. Neurology, 2025 Mar

doi: S1474-4422(24)00518-0

Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T

Journal of neurology, 2025 Feb 17

doi: 10.1007/s00415-025-12899-3

Publicaties Ziekte van Pompe