Constantinos Papadopoulos1, David Orlikowski2, Hélène Prigent2, Arnaud Lacour3, Céline Tard3, Alain Furby4, Julien Praline5, Guilhem Solé6, Jean-Yves Hogrel7, Marie De Antonio8, Claudio Semplicini7, Joelle Deibener-Kaminsky9, Pierre Kaminsky9, Bruno Eymard7, Nadjib Taouagh7, Barbara Perniconi7, Dalil Hamroun10, Pascal Laforêt7. 1. Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: constantinospapadopoulos@yahoo.com. 2. Service de Réanimation médicale et unité de ventilation à domicile, centre de référence neuromusculaire GNHM, CHU Raymond Poincaré, Garches, France. 3. CHRU de Lille, centre de référence des maladies neuromusculaires de Lille, Lille, France. 4. Centre de référence des maladies neuromusculaires rares Rhône-Alpes, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France. 5. Centre de compétence des maladies neuromusculaires, CHRU de Tours, Tours, France. 6. Centre de référence des maladies neuromusculaires, Sud-Ouest Hôpital Pellegrin, CHU de Bordeaux, France. 7. Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France. 8. INSERMU1138, Centre de recherche des Cordeliers, Paris Descartes University, Paris, France; INSERMU1138, Centre de recherche des Cordeliers, UPMC University, Paris, France. 9. Centre de référence des maladies héréditaires du métabolisme de Nancy, hôpitaux de Brabois, CHU de Nancy, Vandoeuvre Nancy, France. 10. Centre Hospitalo-universitaire de Montpellier, Hôpital Arnaud-de-Villeneuve, Montpellier, France.
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.
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: Gerben J Schaaf; Tom J M van Gestel; Stijn L M In 't Groen; Bart de Jong; Björn Boomaars; Antonietta Tarallo; Monica Cardone; Giancarlo Parenti; Ans T van der Ploeg; W W M Pim Pijnappel Journal: Acta Neuropathol Commun Date: 2018-11-07 Impact factor: 7.801
Authors: Monica Y Niño; Stijn L M In 't Groen; Atze J Bergsma; Nadine A M E van der Beek; Marian Kroos; Marianne Hoogeveen-Westerveld; Ans T van der Ploeg; W W M Pim Pijnappel Journal: Hum Mutat Date: 2019-07-29 Impact factor: 4.878
Authors: David W Stockton; Priya Kishnani; Ans van der Ploeg; Juan Llerena; Matthias Boentert; Mark Roberts; Barry J Byrne; Roberto Araujo; Sonia S Maruti; Nathan Thibault; Karien Verhulst; Kenneth I Berger Journal: J Neurol Date: 2020-06-10 Impact factor: 4.849