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86 results

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

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease.

Theunissen MTM, van den Elsen RM, House TL, Crittenden B, van Doorn PA, van der Ploeg AT, Kruijshaar ME, van der Beek NAME

Journal of neurology, 2023 Nov 20

doi: 10.1007/s00415-023-11999-2

Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.

Ismailova G, Wagenmakers MAEM, Brusse E, van der Ploeg AT, Favejee MM, van der Beek NAME, van den Berg LEM

Orphanet journal of rare diseases, 2023 Oct 11

doi: 10.1186/s13023-023-02924-x

Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues.

van der Wal E, Iuliano A, In 't Groen SLM, Bholasing AP, Priesmann D, Sharma P, den Hamer B, Saggiomo V, Krüger M, Pijnappel WWMP, de Greef JC

Stem cell reports, 2023 Sep 20

doi: 10.1016/j.stemcr.2023.08.014

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Ditters IAM, van Kooten HA, van der Beek NAME, van der Ploeg AT, Huidekoper HH, van den Hout JMP

Biomolecules, 2023 Sep 19

doi: 10.3390/biom13091414

variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.

Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP

Molecular genetics and metabolism reports, 2023 Sep

doi: 10.1016/j.ymgmr.2023.100997