Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.

Najac C, van der Beek NAME, Boer VO, van Doorn PA, van der Ploeg AT, Ronen I, Kan HE, van den Hout JMP

Brain communications, 2024

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME,

European journal of neurology, 2024 Aug 28

doi: 10.1111/ene.16397

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, 2024 Jun 19

doi: 10.1007/s00415-024-12489-9

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Schoser B, van der Beek NAME, 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 WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT

European journal of neurology, 2024 Jun 14

doi: 10.1111/ene.16383

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL

Orphanet journal of rare diseases, 2024 May 07

doi: 10.1186/s13023-024-03176-z

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.

van den Dorpel JJA, Mackenbach MJ, Dremmen MHG, van der Vlugt WMC, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel R, van der Beek NAME, van den Hout JMP

Journal of inherited metabolic disease, 2024 Apr 08

doi: 10.1002/jimd.12736

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T,

Journal of neurology, 2024 Feb 28

doi: 10.1007/s00415-024-12236-0

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.

Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME

European journal of neurology, 2024 Feb 20

doi: 10.1111/ene.16223

Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease.

Liang Q, Vlaar EC, Pijnenburg JM, Rijkers E, Demmers JAA, Vulto AG, van der Ploeg AT, van Til NP, Pijnappel WWMP

Journal of proteomics, 2024 Jan 16

doi: S1874-3919(23)00226-9

Lentiviral gene therapy for Mucopolysaccharidosis II with tagged IDS prevents life threatening pathology in peripheral tissues but fails to correct cartilage.

Catalano F, Vlaar EC, Dammou Z, Katsavelis D, Huizer TF, Zundo G, Hoogeveen-Westerveld M, Oussoren E, van den Hout HJMP, Schaaf G, Pike-Overzet K, Staal F, Van Der Ploeg A, Pijnappel WWMP

Human gene therapy, 2023 Dec 12

doi: 10.1089/hum.2023.177

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, 2023 Dec 06

doi: 10.1007/s00415-023-12096-0

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.

Catalano F, Vlaar EC, Katsavelis D, Dammou Z, Huizer TF, van den Bosch JC, Hoogeveen-Westerveld M, van den Hout HJMP, Oussoren E, Ruijter GJG, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Methods & clinical development, 2023 Dec 14

doi: 10.1016/j.omtm.2023.101149

Publicaties Lysosomale stapelingsziekten