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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Mol Genet Metab. 2017 09; 122(1-2):80-85.MG

Abstract

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 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.

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.

Authors+Show Affiliations

Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: constantinospapadopoulos@yahoo.com.Service de Réanimation médicale et unité de ventilation à domicile, centre de référence neuromusculaire GNHM, CHU Raymond Poincaré, Garches, France.Service de Réanimation médicale et unité de ventilation à domicile, centre de référence neuromusculaire GNHM, CHU Raymond Poincaré, Garches, France.CHRU de Lille, centre de référence des maladies neuromusculaires de Lille, Lille, France.CHRU de Lille, centre de référence des maladies neuromusculaires de Lille, Lille, France.Centre de référence des maladies neuromusculaires rares Rhône-Alpes, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France.Centre de compétence des maladies neuromusculaires, CHRU de Tours, Tours, France.Centre de référence des maladies neuromusculaires, Sud-Ouest Hôpital Pellegrin, CHU de Bordeaux, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.INSERMU1138, Centre de recherche des Cordeliers, Paris Descartes University, Paris, France; INSERMU1138, Centre de recherche des Cordeliers, UPMC University, Paris, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.Centre de référence des maladies héréditaires du métabolisme de Nancy, hôpitaux de Brabois, CHU de Nancy, Vandoeuvre Nancy, France.Centre de référence des maladies héréditaires du métabolisme de Nancy, hôpitaux de Brabois, CHU de Nancy, Vandoeuvre Nancy, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.Centre Hospitalo-universitaire de Montpellier, Hôpital Arnaud-de-Villeneuve, Montpellier, France.Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.No affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

28648663

Citation

Papadopoulos, Constantinos, et al. "Effect of Enzyme Replacement Therapy With Alglucosidase Alfa (Myozyme®) in 12 Patients With Advanced Late-onset Pompe Disease." Molecular Genetics and Metabolism, vol. 122, no. 1-2, 2017, pp. 80-85.
Papadopoulos C, Orlikowski D, Prigent H, et al. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. Mol Genet Metab. 2017;122(1-2):80-85.
Papadopoulos, C., Orlikowski, D., Prigent, H., Lacour, A., Tard, C., Furby, A., Praline, J., Solé, G., Hogrel, J. Y., De Antonio, M., Semplicini, C., Deibener-Kaminsky, J., Kaminsky, P., Eymard, B., Taouagh, N., Perniconi, B., Hamroun, D., & Laforêt, P. (2017). Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. Molecular Genetics and Metabolism, 122(1-2), 80-85. https://doi.org/10.1016/j.ymgme.2017.06.007
Papadopoulos C, et al. Effect of Enzyme Replacement Therapy With Alglucosidase Alfa (Myozyme®) in 12 Patients With Advanced Late-onset Pompe Disease. Mol Genet Metab. 2017;122(1-2):80-85. PubMed PMID: 28648663.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. AU - Papadopoulos,Constantinos, AU - Orlikowski,David, AU - Prigent,Hélène, AU - Lacour,Arnaud, AU - Tard,Céline, AU - Furby,Alain, AU - Praline,Julien, AU - Solé,Guilhem, AU - Hogrel,Jean-Yves, AU - De Antonio,Marie, AU - Semplicini,Claudio, AU - Deibener-Kaminsky,Joelle, AU - Kaminsky,Pierre, AU - Eymard,Bruno, AU - Taouagh,Nadjib, AU - Perniconi,Barbara, AU - Hamroun,Dalil, AU - Laforêt,Pascal, AU - ,, Y1 - 2017/06/20/ PY - 2017/05/30/received PY - 2017/06/18/revised PY - 2017/06/18/accepted PY - 2017/6/27/pubmed PY - 2018/5/19/medline PY - 2017/6/27/entrez KW - Advanced KW - Enzyme replacement therapy KW - Pompe disease KW - Respiratory failure SP - 80 EP - 85 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 122 IS - 1-2 N2 - 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 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. 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. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/28648663/Effect_of_enzyme_replacement_therapy_with_alglucosidase_alfa__Myozyme®__in_12_patients_with_advanced_late_onset_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(17)30336-0 DB - PRIME DP - Unbound Medicine ER -