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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease

Constantinos Papadopoulos David Orlikowski Helene Prigent Arnaud Lacour 1 Celine Tard 2 Alain Furby Julien Praline Guilhem Solé Jean-Yves Hogrel Marie de Antonio Claudio Semplicini Joelle Deibener-Kaminsky Pierre Kaminsky Nadjib Taouagh Barbara Perniconi Dalil Hamroun Pascal Laforêt Guillaume Bassez Anne-Laure Bedat-Millet Anthony Behin Bruno Eymard Sarah Leonard-Louis Tanya Stojkovic Aurélie Canal Valérie Decostre Françoise Bouhour François-Constant Boyer Catherine Caillaud Yves Castaing Françoise Chapon Pascal Cintas Isabelle Durieu Andoni Echaniz-Laguna Léonard Feasson Xavier Ferrer Roseline Froissart Monique Piraud Dominique Germain Karelle Benistan Nathalie Guffon-Fouilhoux Hubert Journel Pierre Labauge Antoine Levy Armelle Magot Yann Pereon Marie-Christine Minot-Myhie Aleksandra Nadaj-Pakleza Anne-Catherine Nathier Nadine Pellegrini Philippe Petiot Frederic Lofaso Dimitri Renard Sabrina Sacconi Claude Desnuelle Emmanuelle Salort-Campana Jean Pouget Vincent Tiffreau 3 Didier Vincent Fabien Zagnoli
1 CHRU Lille - Centre Hospitalier Régional Universitaire [Lille]
2 TCDV - Troubles cognitifs dégénératifs et vasculaires - U 1171
3 URePSSS - Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488
Abstract : The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared. Twelve patients (7 males) were identified. Median age at symptom onset was 24years [IQR=15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24h [IQR=21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5years [IQR=35.75; 66.50]. Median treatment duration was 55months [IQR=39.5; 81.0]. During observational period no adverse reaction to ERT was recorded, five patients (41.67%) died, three decreased their ventilation time by 30, 60 and 90min and two increased their assisted walking distance, by 80 and 20m. Some patients at a very advanced stage of Pompe disease may show a mild benefit from ERT, in terms of increased time of autonomous ventilation and of enlarged distance in assisted walk. ERT can be initiated in these patients in order to retain their current level of independence and ability to perform daily life activities.
Keywords : Mesh:Late Onset Disorders/drug therapy Mesh:Humans Mesh:alpha-Glucosidases/adverse effects Mesh:Male Mesh:Middle Aged Mesh:Respiration Mesh:Adult Mesh:Cohort Studies Mesh:Walking Mesh:Enzyme Replacement Therapy*/adverse effects Mesh:Female Mesh:alpha-Glucosidases/administration & dosage Mesh:Glycogen Storage Disease Type II/physiopathology Mesh:Glycogen Storage Disease Type II/drug therapy* Mesh:France Mesh:alpha-Glucosidases/therapeutic use* Enzyme replacement therapy Pompe disease Advanced Respiratory failure
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https://hal.univ-lille.fr/hal-02369159
Contributeur : Lilloa Université de Lille <>
Soumis le : lundi 18 novembre 2019 - 18:10:58
Dernière modification le : lundi 7 décembre 2020 - 10:22:04

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Constantinos Papadopoulos, David Orlikowski, Helene Prigent, Arnaud Lacour, Celine Tard, et al.. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease. Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩. ⟨hal-02369159⟩

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