Article
Genetics & Heredity
Martha Caterina Faraguna, Viola Crescitelli, Anna Fornari, Silvia Barzaghi, Salvatore Savasta, Thomas Foiadelli, Daniele Veraldi, Matteo Paoletti, Anna Pichiecchio, Serena Gasperini
Summary: In recent years, the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients has increased significantly through family screening or Newborn Screening (NBS). The difficult decision of when to start Enzyme Replacement Therapy (ERT) arises due to the absence of clinical signs, the cost of treatment, risk of side effects, and long-term immunogenicity. Muscle Magnetic Resonance Imaging (MRI) serves as an important tool for diagnosing and monitoring LOPD patients, especially those who are asymptomatic.
Review
Biochemistry & Molecular Biology
Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Summary: Pompe disease is a genetic disorder caused by mutations in the GAA gene. It can be classified into infantile-onset and late-onset forms. Assessment of acid α-glucosidase activity and enzyme replacement therapy are important for diagnosis and treatment. Novel approaches such as gene therapy are being studied.
Article
Pediatrics
Imke Anise Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana Enrico Mongini, Francois Labarthe, Marine Tardieu, Brigitte Chabrol, Anais Brassier, Rossella Parini, Giancarlo Parenti, Nadine Anna Maria Elisabeth van der Beek, Ans Tjitske van der Ploeg, Johanna Maria Pieternel van den Hout
Summary: This study assessed the effect of enzyme replacement therapy (ERT) with alglucosidase alfa on survival and walking ability in patients with classic infantile Pompe disease. The results showed that a high ERT dosage of 40 mg/kg per week significantly improved survival compared to the standard recommended dosage of 20 mg/kg every other week. These findings suggest a need for reconsideration of the currently registered dosage.
LANCET CHILD & ADOLESCENT HEALTH
(2022)
Review
Clinical Neurology
Theo Maulet, Celine Bonnyaud, Catherine Weill, Pascal Laforet, Thomas Cattagni
Summary: This scoping review aimed to summarize current knowledge about motor function in late-onset Pompe disease (LOPD). Studies showed that LOPD patients experience significant weakness in motor function, especially in the hip and lumbar muscles. They exhibit limited locomotor activities with reduced walking distance, modification of spatiotemporal gait parameters, and increased pelvic drop and tilt. Balance disorders are also observed in LOPD patients, especially in the anteroposterior direction.
Review
Clinical Neurology
Farzad Fatehi, Mahmoud Reza Ashrafi, Marzieh Babaee, Behnaz Ansari, Mehran Beiraghi Toosi, Reza Boostani, Peyman Eshraghi, Atefeh Fakharian, Zahra Hadipour, Bahram Haghi Ashtiani, Hossein Moravej, Yalda Nilipour, Payam Sarraf, Keyhan Sayadpour Zanjani, Shahriar Nafissi
Summary: This article focuses on developing a national guideline for Pompe disease in Iran based on local requirements, aiming to assist healthcare professionals in Iran in achieving the diagnosis, appropriate treatment, and better follow-up of patients with infantile-onset and late-onset Pompe disease.
FRONTIERS IN NEUROLOGY
(2021)
Article
Endocrinology & Metabolism
Meng-Ju Melody Tsai, Mei-Huei Chen, Yin-Hsiu Chien, Yi-Ching Tung
Summary: 55% of Pompe disease patients on enzyme replacement therapy experience precocious puberty, which may impact their adult height. However, the potential effects of frequent medical device exposure on precocious puberty in these patients are not well understood, thus further investigation is warranted.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zeenath Unnisa, John K. Yoon, Jeffrey W. Schindler, Chris Mason, Niek P. van Til
Summary: Pompe disease is a genetic neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). While enzyme replacement therapy has limitations, gene therapies using adeno-associated virus (AAV) and lentiviral vector (LV) show potential in treating this disorder. Improved preclinical efficacy and safety data have been achieved by optimizing viral vector designs for tissue-specific expression and GAA protein modifications.
Article
Medicine, Research & Experimental
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti
Summary: Oxidative stress affects the efficacy of enzyme replacement therapy in Pompe disease, and correction of oxidative stress may improve treatment outcomes. Antioxidant co-administration with rhGAA enhances enzyme activity and processing, suggesting a potential strategy to improve therapies for Pompe disease.
EMBO MOLECULAR MEDICINE
(2021)
Article
Medicine, Research & Experimental
Naresh K. Meena, Davide Randazzo, Nina Raben, Rosa Puertollano
Summary: Gene therapy has shown potential in treating lysosomal storage disorders, such as Pompe disease, by reversing glycogen storage and improving cellular abnormalities. In a study, adeno-associated virus-mediated gene transfer successfully reversed glycogen storage in various target tissues and improved secondary cellular abnormalities in skeletal muscle. These findings lay the foundation for future clinical development in treating Pompe disease.
Review
Clinical Neurology
Benedikt Schoser, Pascal Laforet
Summary: This review provides an overview of therapeutic approaches for adult Pompe disease, including enzyme replacement therapy, gene therapy, and substrate reduction therapy. Recent studies and long-term data have shown promising results, but further research is needed to support the use of these treatments in adult patients.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Medicine, General & Internal
Alicia Dorneles Dornelles, Ana Paula Pedroso Junges, Tiago Veiga Pereira, Barbara Correa Krug, Candice Beatriz Treter Goncalves, Juan Clinton Llerena Jr, Priya Sunil Kishnani, Haliton Alves de Oliveira Jr, Ida Vanessa Doederlein Schwartz
Summary: This study reviewed the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for late-onset Pompe disease (LOPD). Results indicated improvements in walking ability, quality of life, and ventilation time with GAA ERT, while adverse events were mild.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Stephan Wenninger, Kristina Gutschmidt, Corinna Wirner, Krisztina Einvag, Federica Montagnese, Benedikt Schoser
Summary: The interruption of enzyme replacement therapy in late-onset Pompe disease patients was associated with a deterioration in core clinical outcome measures, highlighting the importance of keeping interruptions as short as possible to maintain stable disease progression.
JOURNAL OF NEUROLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Marleen de Bruijne, Harm A. W. M. Tiddens, Ans T. van der Ploeg, Pieter A. van Doorn
Summary: MRI can evaluate the progression of Pompe disease and the effectiveness of treatment by assessing changes in diaphragmatic curvature. Once severe diaphragmatic weakness occurs, improvement in diaphragm muscle function seems unlikely.
EUROPEAN RADIOLOGY
(2022)
Article
Chemistry, Medicinal
Lina Fiege, Ibrahim Duran, Thorsten Marquardt
Summary: Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Current enzyme replacement therapy (ERT) has shown limited effectiveness in treating the disease. However, a new generation of ERT, Cipaglucosidase alfa/Miglustat, has shown significant improvement in respiratory failure, cardiomyopathy, and motor functions in patients with severe infantile Pompe disease.
Article
Medicine, General & Internal
Shan Tang, Jiachu Ma, Huaxing Meng, Junhong Guo, Shuyan Cao, Binquan Wang
Summary: This study focused on the standard management of enzyme replacement therapy for late-onset Pompe disease patients, analyzing the impact of different methods on injection fluid dispensing and infusion procedures. By establishing standardized operating procedures, nursing times and labor costs can be effectively controlled while ensuring a safe and effective infusion process.
Article
Oncology
Galina Farina Fischer, Detlef Bruegge, Nicolaus Andratschke, Brigitta Gertrud Baumert, Davide Giovanni Bosetti, Francesca Caparrotti, Evelyn Herrmann, Alexandros Papachristofilou, Susanne Rogers, Lucia Schwyzer, Daniel Rudolf Zwahlen, Thomas Hundsberger, Paul Martin Putora
Summary: Due to limited evidence on the utility of postoperative radiotherapy for meningiomas, treatment strategies vary considerably among clinical experts depending on the clinical setting, even in a small country like Switzerland. Clear majorities were identified for postoperative radiotherapy in WHO grade III meningiomas and against radiotherapy for hemispheric grade I meningiomas outside critical locations.
Article
Oncology
A. M. Zeitlberger, P. M. Putora, S. Hofer, P. Schucht, D. Migliorini, A. F. Hottinger, U. Roelcke, H. Laeubli, P. Spina, O. Bozinov, M. Weller, M. C. Neidert, T. Hundsberger
Summary: In Switzerland, NGS is frequently used in adult patients with glioblastoma in Neuro-Oncology centres, particularly in younger, fitter patients who are not suitable for standard therapy. Despite its limited impact on treatment decisions, the application of NGS remains common in these centres.
JOURNAL OF NEURO-ONCOLOGY
(2022)
Editorial Material
Ophthalmology
Anna Friesacher, Christophe Valmaggia, Thomas Hundsberger, Margarita Todorova
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
(2022)
Article
Oncology
Ulrich Roelcke, Lucia Schwyzer, Anna Maria Zeitlberger, Thomas Hundsberger
Summary: This article introduces a clinical toolkit for the evaluation of symptom burden, performance status, and neurological function in glioblastoma patients. Through a prospective follow-up evaluation of 50 patients, the authors found that composite score, fatigue score, NIH-SS, and KPS were suitable biomarkers for evaluating symptom burden and disease progression. The clinical toolkit is feasible in routine clinical practice and can reflect changes in the disease course of glioblastoma patients.
Article
Behavioral Sciences
Jacoba van der Linde, Carole Jenny, Thomas Hundsberger, Philip J. Broser
Summary: The aim of this study was to analyze the increase in diameter of the nerve roots C5 and C6 in early childhood. The results showed that the main increase in diameter occurs during the first 2 years of life, and then the growth rate decreases steadily. Additionally, the study found that the maturation of the proximal part of the nerve is comparable to the maturation of its distal segments.
BRAIN AND BEHAVIOR
(2022)
Article
Clinical Neurology
Alexis Paul Romain Terrapon, Marie Kruger, Thomas Hundsberger, Marian Christoph Neidert, Oliver Bozinov
Summary: Randomized controlled studies are necessary to prove the prognosis and quality of life.
NEUROSURGERY CLINICS OF NORTH AMERICA
(2023)
Article
Oncology
Markus Joerger, Thomas Hundsberger, Simon Haefliger, Roger von Moos, Andreas F. Hottinger, Thomas Kaindl, Marc Engelhardt, Michalina Marszewska, Heidi Lane, Patrick Roth, Anastasios Stathis
Summary: The purpose of this study was to evaluate the safety, tolerability and antitumor activity of lisavanbulin as a 48-hour intravenous infusion at the recommended Phase 2 dose. The study included patients with ovarian, fallopian-tube, or primary peritoneal cancer as well as glioblastoma patients. The results showed that lisavanbulin was well tolerated and exhibited some antitumor activity in patients.
INVESTIGATIONAL NEW DRUGS
(2023)
Article
Behavioral Sciences
Carole Jenny, Jacoba van der Linde, Thomas Hundsberger, Philip J. Broser
Summary: The study aimed to investigate the maturation of the peripheral nervous system by analyzing the cross-sectional area of the sciatic nerve during the first 2 years of life. Using high-resolution ultrasound imaging, the sciatic nerve of 52 children aged 0 days to 10 years was examined, and a significant correlation between age and nerve cross-sectional area was found. A logarithmic growth model was developed to describe the growth rate of the nerve. The study provides normative values for the size of the sciatic nerve in children.
BRAIN AND BEHAVIOR
(2023)
Article
Oncology
C. Schmitt, E. P. Hoefsmit, T. Fangmeier, N. Kramer, C. Kabakci, J. Vera Gonzalez, J. M. Versluis, A. Compter, T. Harrer, H. Mijocevic, S. Schubert, T. Hundsberger, A. M. Menzies, R. A. Scolyer, G. V. Long, L. E. French, C. U. Blank, L. M. Heinzerling
Summary: A study of melanoma patients from three countries found no significant association between previous neurotropic infections and immune checkpoint inhibitor-induced neurological adverse events.
CANCER IMMUNOLOGY IMMUNOTHERAPY
(2023)
Article
Immunology
Paraskevas Filippidis, Jose Damas, Benjamin Viala, Frederic Assal, Olivier Nawej Tshikung, Philip Tarr, Tobias Derfuss, Michael Oberholzer, Ilijas Jelcic, Thomas Hundsberger, Leonardo Sacco, Matthias Cavassini, Renaud Du Pasquier, Katharine E. A. Darling
Summary: CSF HIV-1 escape occurred in 8.7% of PLWH in Switzerland, and these individuals did not have distinctive clinical or paraclinical characteristics compared to those without escape. Lumbar puncture is therefore necessary for confirming CSF HIV-1 escape.
JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
(2023)
Meeting Abstract
Clinical Neurology
A. Zeitlberger, P. Putora, S. Hofer, P. Schucht, D. Migliorini, A. Hottinger, U. Roelcke, H. Laubli, P. Spina, O. Bozinov, M. Weller, M. Neidert, T. Hundsberger
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Meeting Abstract
Oncology
Johannes Weller, Thomas Zeyen, Uwe Schlegel, Lazaros Lazaridis, Jan-Michael Werner, Julia Onken, Pia Zeiner, Richard Drexler, Peter Hau, Clemens Seidel, Lucia Grosse, Hans Clusmann, Michael Sabel, Florian Ringel, Josef Pichler, Oliver Grauer, Thomas Hundsberger, Oliver Schnell, Maximilian J. Mair, Martin Uhl, Friederike Schmidt-Graf, Martin Glas, Norbert Galldiks, Meike Unteroberdoerster, Joachim Steinbach, Franz Ricklefs, Mirjam Renovanz, Daniel Ivanov Delev, Merih O. Turgut, Oliver R. Flesch, Debora Cipriani, Matthias Preusser, Sied Kebir, Martin Misch, Roland Goldbrunner, Manfred Westphal, Ghazaleh Tabatabai, Niklas Schaefer, Matthias Schneider, Hartmut Vatter, Frank Giordano, Christina Schaub, Ulrich Herrlinger
Meeting Abstract
Clinical Neurology
J. Zimmermann, C. Rothermundt, T. Hundsberger
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Meeting Abstract
Clinical Neurology
B. Wagner, A. Beuttler, N. Kiriakidis, M. Joerger, R. Kaeufeler, T. Hundsberger
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Meeting Abstract
Clinical Neurology
M. Baldauf, W. Jochum, A. Lauber, T. Hundsberger, M. Brandle
EUROPEAN JOURNAL OF NEUROLOGY
(2022)