Title :

Effect of enzyme replacement therapy with alglucosidase alfa (myozyme (r)) in 12 patients with advanced late-onset pompe disease

Author(s) :

Papadopoulos, Constantinos [Auteur]
Orlikowsld, David [Auteur]
Prigent, Helene [Auteur]
Lacour, Arnaud [Auteur]
Tard, Celine [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Furby, Alain [Auteur]
Praline, Julien [Auteur]
Sole, Guilhem [Auteur]
Hogrel, Jean-Yves [Auteur]
De Antonio, Marie [Auteur]
Semplicini, Claudio [Auteur]
Deibener-Kaminsky, Joelle [Auteur]
Kaminsky, Pierre [Auteur]
Eymard, Bruno [Auteur]
Taouagh, Nadjib [Auteur]
Perniconi, Barbara [Auteur]
Hamroun, Dalil [Auteur]
Laforet, Pascal [Auteur]
Bassez, G. [Auteur]
Bedat-Millet, A. -L. [Auteur]
Behin, Anthony [Auteur]
Eymard, Bruno [Auteur]
Leonard-Louis, S. [Auteur]
Stojkovic, Tanya [Auteur]
Canal, A. [Auteur]
Decostre, V. [Auteur]
Bouhour, Françoise [Auteur]
Boyer, François C. [Auteur]
Caillaud, Catherine [Auteur]
Castaing, Y. [Auteur]
Chapon, Françoise [Auteur]
Cintas, Pascal [Auteur]
Durieu, I. [Auteur]
Echaniz-Laguna, Andoni [Auteur]
Feasson, L. [Auteur]
Ferrer, Xavier [Auteur]
Froissart, Roseline [Auteur]
Piraud, M. [Auteur]
Germain, D. [Auteur]
Benistan, K. [Auteur]
Guffon-Fouilhoux, N. [Auteur]
Journel, H. [Auteur]
Labauge, Pierre [Auteur]
Levy, A. [Auteur]
Magot, Armelle [Auteur]
Pereon, Yann [Auteur]
Minot-Myhie, Marie-Christine [Auteur]
Nadaj-Pakleza, Aleksandra [Auteur]
Nathier, C. [Auteur]
Pellegrini, N. [Auteur]
Petiot, Philippe [Auteur]
Lofaso, N. [Auteur]
Dutry, A. [Auteur]
Renard, D. [Auteur]
Sacconi, Sabrina [Auteur]
Desnuelle, C. [Auteur]
Salort-Campana, Emmanuelle [Auteur]
Pouget, J. [Auteur]
Tiffreau, Vincent [Auteur]
Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS]
Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369
Vincent, Denis [Auteur]
Zagnoli, Fabien [Auteur]

Journal title :

Molecular genetics and metabolism

Abbreviated title :

Mol. Genet. Metab.

Volume number :

122

Pages :

80-85

Publication date :

2017-09-01

ISSN :

1096-7192

English keyword(s) :

Enzyme replacement therapy
Pompe disease
Advanced
Respiratory failure

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Univ. Artois
Univ. Littoral Côte d’Opale
Université de Lille

Collections :

• Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369

Submission date :

2019-11-27T14:34:37Z