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131 results

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

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.

Dimachkie MM, Kishnani PS, Ivanescu C, Flore G, Gwaltney C, van der Beek NAME, Hamed A, An Haack K, Pollissard L, Baranowski E, Sparks SE, DasMahapatra P,

Neurology. Clinical practice, 2023 Oct

doi: 10.1212/CPJ.0000000000200181

Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.

Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, Díaz-Manera J, Rizopoulos D, Teunissen C, van der Ploeg AT, van den Hout JMP

Neurology, 2023 Jun 19

doi: 10.1212/WNL.0000000000207482

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.

Ditters IAM, van Kooten HA, van der Beek NAME, Hardon JF, Ismailova G, Brusse E, Kruijshaar ME, van der Ploeg AT, van den Hout JMP, Huidekoper HH

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2023 Jun 16

doi: 10.1007/s40259-023-00609-2