Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.

Theunissen MTM, Ditters IAM, van Kooten HA, van Doorn PA, van den Hout JMP, Hoogeveen-Westerveld M, Jacobs EH, van der Ploeg AT, van der Beek NAME

Genetics in medicine : official journal of the American College of Medical Genetics, 2026 Apr 13

doi: S1098-3600(26)00896-8

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

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G

Journal of inherited metabolic disease, 2026 Jan

doi: 10.1002/jimd.70136

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, Audi J, Botha J, Whiteman DAH, Giugliani R, Muenzer J

Molecular genetics and metabolism, 2026 Jan 12

doi: S1096-7192(26)00017-X

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

Muenzer J, Burton BK, Harmatz P, Rajan DS, Jones SA, van den Hout JMP, Mitchell JJ, Bhalla A, Engmann NJ, Zubizarreta I, Dong W, Model F, Watts RJ, Troyer MD, Chin PS, Ho C

The New England journal of medicine, 2026 Jan 01

doi: 10.1056/NEJMoa2508681

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

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.

Burton BK, Fertek D, Chin PS, Ho C, Giugliani R, van den Hout JMP, Magner M, Ezgü F, AlSayed M, Muenzer J, Okuyama T, Jones SA

Molecular genetics and metabolism, 2025 Sep 29

doi: S1096-7192(25)00239-2

Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.

Catalano F, Stevic D, Zundo G, Huizer TF, Dammou Z, Vlaar EC, Katsavelis D, van den Bosch JC, van den Hout HJMP, Oussoren E, van der Ploeg AT, Ruijter GJG, Schaaf G, Pijnappel WWMP

EMBO molecular medicine, 2025 Sep 29

doi: 10.1038/s44321-025-00314-3

Publicaties Lysosomale stapelingsziekten