Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease
| Autor: | Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt, G. Bassez, A.-L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, C. Caillaud, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, X. Ferrer, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Levy, A. Magot, Y. Péréon, M.-C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, F. Lofaso, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli |
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| Přispěvatelé: | Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille, Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Artois (UA)-Université de Lille-Université du Littoral Côte d'Opale (ULCO) |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pediatrics Endocrinology Diabetes and Metabolism [SDV]Life Sciences [q-bio] Mesh:Walking Walking Mesh:Adult Respiratory failure Biochemistry Late Onset Disorders Cohort Studies 0302 clinical medicine Endocrinology Mesh:alpha-Glucosidases/therapeutic use Glycogen Storage Disease Type II Respiration Pompe disease Enzyme replacement therapy Middle Aged 3. Good health Diabetes and Metabolism Mesh:Late Onset Disorders/drug therapy Cohort Breathing Female France Mesh:Respiration Mesh:alpha-Glucosidases/administration & dosage Mesh:Enzyme Replacement Therapy*/adverse effects medicine.drug Adult Mesh:Female medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Mesh:Glycogen Storage Disease Type II/drug therapy Mesh:Male Late onset 03 medical and health sciences FEV1/FVC ratio Mesh:alpha-Glucosidases/adverse effects Mesh:Middle Aged Mesh:Glycogen Storage Disease Type II/physiopathology Genetics medicine Humans Mesh:Cohort Studies Adverse effect Molecular Biology Alglucosidase alfa Mesh:France Advanced business.industry nutritional and metabolic diseases alpha-Glucosidases Surgery Mesh:Humans 030104 developmental biology business 030217 neurology & neurosurgery |
| Zdroj: | Molecular Genetics and Metabolism Molecular Genetics and Metabolism, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩ Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩ |
| ISSN: | 1096-7192 1096-7206 |
| DOI: | 10.1016/j.ymgme.2017.06.007⟩ |
| Popis: | Background 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. Methods 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. Results Twelve patients (7 males) were identified. Median age at symptom onset was 24 years [IQR = 15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24 h [IQR = 21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5 years [IQR = 35.75; 66.50]. Median treatment duration was 55 months [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 90 min and two increased their assisted walking distance, by 80 and 20 m. Conclusion 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. |
| Databáze: | OpenAIRE |
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