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Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)
Clinical Therapeutics/Volume 33, Supplement A, 2011
Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®) P. Laforêt1; C. Payan2; K. Laloui2; J-Y. Hogrel2; C. Wary3; R. Carlier4; N. Pellegrini4; A-L. Bedat-Millet5; I. Durieu6; A. Furby7; I. Penisson-Besnier8; J. Praline9; D. Orlikowski4; N. Guffon-Fouilhoux10; A. Levy11; and B. Eymard1 1
Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Centre de référence de pathologie neuromusculaire Paris-Est, Paris; 2Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris; 3CEA, FBM, MIRCen, IdM NMR Laboratory, Paris; 4Hôpital Raymond Poincaré, Garches, Assistance Publique-Hôpitaux de Paris; 5 Centre hospitalier de de Rouen; 6Groupe Hospitalier Lyon Sud; 7Centre hospitalier de St-Etienne; 8Centre hospitalier d’Angers; 9Hôpital de Tours; 10Hôpital Edouard Herriot-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon; 11Centre hospitalier de Rouen, France Background: Late-onset Pompe disease is characterized by progressive limb-girdle muscle weakness and frequent respiratory insufficiency due to diaphragmatic involvement. Results from a placebo-controlled trial of a recombinant human GAA, alglucosidase alfa, in late-onset Pompe disease (LOTS), showed an improvement in walking distance and a stabilization of pulmonary function over an 18-month period. Objective: The objective of this study was to evaluate the benefit of enzyme replacement therapy (ERT) in patients treated in France during periods longer than 18 months. Methods: Twenty-six patients received biweekly alglucosidase alfa 20 mg/kg IV during a mean duration of 42 months (18 to 48 months). Skeletal muscles weakness was evaluated with manual muscle testing, quantitative muscle testing, 6 minute walking test (6MWT), and motor function measure scale (MFM). Pulmonary function was assessed by upright and supine vital capacity (VC), maximum inspiratory and expiratory pressures (MIP and MEP), and duration of assisted ventilation for ventilated patients. Whole-body muscle magnetic resonance imaging and 13C NMR spectroscopy were also performed in some patients. Results: Mean age of the patients at the beginning of ERT was 53 years (22–73 yrs). Nine patients could walk without assistance, 9 walked with a walking device, and eight were wheelchair bound. Baseline 6MWT was performed in 2/3 of patients with a mean walking distance of 299 meters (75–520). Sixteen patients needed ventilator assistance. Baseline mean upright VC was 1.80 liters (0.60 –3.90 L), and mean supine VC was 1.20 liters (0.40 –2.65 L). Mean MIP value was 35.7 cmH2O (6 –57) and mean MEP value was 48.4 cmH2O (12–163). Conclusion: The results of the muscular and respiratory follow-up of these 26 patients will be presented, and compared to published data on the benefit of ERT in late-onset Pompe disease. We recommend maintaining a regular monitoring of muscle and pulmonary functions of all patients on ERT every 6 months.
© 2011 Published by Elsevier HS Journals, Inc.
S34
Clin Ther. 2011;33 (Suppl A):S34 0149-2918/$ - see front matter
Volume 33 Supplement A
Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®) P. Laforêt1; C. Payan2; K. Laloui2; J-Y. Hogrel2; C. Wary3; R. Carlier4; N. Pellegrini4; A-L. Bedat-Millet5; I. Durieu6; A. Furby7; I. Penisson-Besnier8; J. Praline9; D. Orlikowski4; N. Guffon-Fouilhoux10; A. Levy11; and B. Eymard1 1
Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Centre de référence de pathologie neuromusculaire Paris-Est, Paris; 2Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris; 3CEA, FBM, MIRCen, IdM NMR Laboratory, Paris; 4Hôpital Raymond Poincaré, Garches, Assistance Publique-Hôpitaux de Paris; 5 Centre hospitalier de de Rouen; 6Groupe Hospitalier Lyon Sud; 7Centre hospitalier de St-Etienne; 8Centre hospitalier d’Angers; 9Hôpital de Tours; 10Hôpital Edouard Herriot-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon; 11Centre hospitalier de Rouen, France Background: Late-onset Pompe disease is characterized by progressive limb-girdle muscle weakness and frequent respiratory insufficiency due to diaphragmatic involvement. Results from a placebo-controlled trial of a recombinant human GAA, alglucosidase alfa, in late-onset Pompe disease (LOTS), showed an improvement in walking distance and a stabilization of pulmonary function over an 18-month period. Objective: The objective of this study was to evaluate the benefit of enzyme replacement therapy (ERT) in patients treated in France during periods longer than 18 months. Methods: Twenty-six patients received biweekly alglucosidase alfa 20 mg/kg IV during a mean duration of 42 months (18 to 48 months). Skeletal muscles weakness was evaluated with manual muscle testing, quantitative muscle testing, 6 minute walking test (6MWT), and motor function measure scale (MFM). Pulmonary function was assessed by upright and supine vital capacity (VC), maximum inspiratory and expiratory pressures (MIP and MEP), and duration of assisted ventilation for ventilated patients. Whole-body muscle magnetic resonance imaging and 13C NMR spectroscopy were also performed in some patients. Results: Mean age of the patients at the beginning of ERT was 53 years (22–73 yrs). Nine patients could walk without assistance, 9 walked with a walking device, and eight were wheelchair bound. Baseline 6MWT was performed in 2/3 of patients with a mean walking distance of 299 meters (75–520). Sixteen patients needed ventilator assistance. Baseline mean upright VC was 1.80 liters (0.60 –3.90 L), and mean supine VC was 1.20 liters (0.40 –2.65 L). Mean MIP value was 35.7 cmH2O (6 –57) and mean MEP value was 48.4 cmH2O (12–163). Conclusion: The results of the muscular and respiratory follow-up of these 26 patients will be presented, and compared to published data on the benefit of ERT in late-onset Pompe disease. We recommend maintaining a regular monitoring of muscle and pulmonary functions of all patients on ERT every 6 months.
© 2011 Published by Elsevier HS Journals, Inc.
S34
Clin Ther. 2011;33 (Suppl A):S34 0149-2918/$ - see front matter
Volume 33 Supplement A