OBJECTIVES: Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. METHODS: We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4- stair climb tests, modified Gowers' maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 selfreporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT. RESULTS: In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p=0.006), remaining at 356.4 ± 155.9 m at 24 months (p=0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p=0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05%after 36 months. Only mean CK levels were significantly decreased by 8.8% (p=0.041). All other tests were statistically nonsignificant changed. CONCLUSION: Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.
OBJECTIVES: Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. METHODS: We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4- stair climb tests, modified Gowers' maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 selfreporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT. RESULTS: In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p=0.006), remaining at 356.4 ± 155.9 m at 24 months (p=0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p=0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05%after 36 months. Only mean CK levels were significantly decreased by 8.8% (p=0.041). All other tests were statistically nonsignificant changed. CONCLUSION: Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.
Authors: M A Kroos; R J Pomponio; M L Hagemans; J L M Keulemans; M Phipps; M DeRiso; R E Palmer; M G E M Ausems; N A M E Van der Beek; O P Van Diggelen; D J J Halley; A T Van der Ploeg; A J J Reuser Journal: Neurology Date: 2007-01-09 Impact factor: 9.910
Authors: C I van Capelle; N A M E van der Beek; M L C Hagemans; W F M Arts; W C J Hop; P Lee; J Jaeken; I M E Frohn-Mulder; P J F M Merkus; D Corzo; A C Puga; A J Reuser; A T van der Ploeg Journal: Neuromuscul Disord Date: 2010-12 Impact factor: 4.296
Authors: Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg Journal: J Neurol Date: 2005-08 Impact factor: 4.849
Authors: Juna M de Vries; Nadine A M E van der Beek; Marian A Kroos; Lale Ozkan; Pieter A van Doorn; Susan M Richards; Crystal C C Sung; Jan-Dietert C Brugma; Adrienne A M Zandbergen; Ans T van der Ploeg; Arnold J J Reuser Journal: Mol Genet Metab Date: 2010-08-14 Impact factor: 4.797
Authors: Suhrad G Banugaria; Sean N Prater; Yiu-Ki Ng; Joyce A Kobori; Richard S Finkel; Roger L Ladda; Yuan-Tsong Chen; Amy S Rosenberg; Priya S Kishnani Journal: Genet Med Date: 2011-08 Impact factor: 8.822
Authors: A Schüller; C Kornblum; M Deschauer; M Vorgerd; B Schrank; E Mengel; Z Lukacs; D Gläser; P Young; U Plöckinger; B Schoser Journal: Nervenarzt Date: 2013-12 Impact factor: 1.214
Authors: Olivier Scheidegger; Daniela Leupold; Rafael Sauter; Oliver Findling; Kai Michael Rösler; Thomas Hundsberger Journal: J Neurol Date: 2018-09-19 Impact factor: 4.849
Authors: J C van der Meijden; D Güngör; M E Kruijshaar; A D J Muir; H A Broekgaarden; A T van der Ploeg Journal: J Inherit Metab Dis Date: 2014-08-12 Impact factor: 4.982