36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

• DOI: 10.1007/s10545-012-9451-8
• Publication Date: 2012-01-30T15:31:55Z
• Authors: Caroline Regnery; Cornelia Kornblum; Frank Hanisch; Stefan Vielhaber; Nicola Strigl‐Pill; Birgit Grunert; Wolfgang Müller‐F...; Franz Xaver Glocker; Matthias Spranger; Marcus Deschauer; Eugen Mengel; Benedikt Schoser
• Keywords: Creatine kinase; Vital capacity

AbstractObjectivesGlycogen 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.MethodsWe 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 self‐reporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.ResultsIn 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 non‐significant changed.ConclusionOur data denote a rather variable course of neuromuscular deficits in chronic adult‐onset Pompe patients during 36 months of alglucosidase alfa ERT.