A T van der Ploeg1, M E Kruijshaar1, A Toscano2, P Laforêt3, C Angelini4, R H Lachmann5, S I Pascual Pascual6,7, M Roberts8, K Rösler9, T Stulnig10, P A van Doorn11, P Y K Van den Bergh12, J Vissing13, B Schoser14. 1. Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands. 2. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 3. Paris-Est, Referral Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. 4. Fondazione S. Camillo Hospital, IRCCS, Venice, Italy. 5. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK. 6. Servicio de Neuropediatria, Hospital Universitario, La Paz, Madrid. 7. Department of Paediatrics, Universidad Autónoma de Madrid, Madrid, Spain. 8. Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK. 9. Neuromuscular Centre, University Department of Neurology, Inselspital, Bern, Switzerland. 10. Department of Medicine III, Medical University of Vienna, Vienna, Austria. 11. Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands. 12. Department of Neurology, Neuromuscular Reference Centre, University Hospitals St-Luc, Brussels, Belgium. 13. Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 14. Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
Abstract
BACKGROUND AND PURPOSE: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here. METHODS: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life. A narrative synthesis is presented. RESULTS: Consensus was reached on how the diagnosis of Pompe disease should be confirmed, when treatment should be started, reasons for stopping treatment and the use of ERT during pregnancy. This was based on expert opinion and supported by the literature. One clinical trial and 43 observational studies, covering a total of 586 individual adult patients, provided evidence of a beneficial effect of ERT at group level. At individual patient level, the response to treatment varied, but factors associated with a patient's response to ERT were not described in many studies. Eleven observational studies focused on more severely affected patients, suggesting that ERT can also be beneficial in these patients. There are no studies on the effects of ERT in pre-symptomatic patients. CONCLUSIONS: This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries.
BACKGROUND AND PURPOSE: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here. METHODS: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life. A narrative synthesis is presented. RESULTS: Consensus was reached on how the diagnosis of Pompe disease should be confirmed, when treatment should be started, reasons for stopping treatment and the use of ERT during pregnancy. This was based on expert opinion and supported by the literature. One clinical trial and 43 observational studies, covering a total of 586 individual adult patients, provided evidence of a beneficial effect of ERT at group level. At individual patient level, the response to treatment varied, but factors associated with a patient's response to ERT were not described in many studies. Eleven observational studies focused on more severely affected patients, suggesting that ERT can also be beneficial in these patients. There are no studies on the effects of ERT in pre-symptomatic patients. CONCLUSIONS: This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries.
Authors: W N Löscher; M Huemer; T M Stulnig; P Simschitz; S Iglseder; C Eggers; H Moser; D Möslinger; M Freilinger; F Lagler; S Grinzinger; M Reichhardt; R E Bittner; W M Schmidt; U Lex; M Brunner-Krainz; S Quasthoff; J V Wanschitz Journal: J Neurol Date: 2017-11-27 Impact factor: 4.849
Authors: Tim A Kanters; Ans T van der Ploeg; Michelle E Kruijshaar; Dimitris Rizopoulos; W Ken Redekop; Maureen P M H Rutten-van Mӧlken; Leona Hakkaart-van Roijen Journal: Orphanet J Rare Dis Date: 2017-12-13 Impact factor: 4.123