Stepien, Karolina M.Hendriksz, Christian J.Roberts, MarkSharma, Reena2016-04-292016-01Stepien, KM, Hendriksz, CJ, Roberts, M & Sharma, R 2016, 'Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years', Molecular Genetics and Metabolism, vol. 117, pp. 413-418.1096-7192 (print)1096-7206 (online)10.1016/j.ymgme.2016.01.013http://hdl.handle.net/2263/52211Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. Wedescribe a retrospective observational cohort study including 22 patientswith LOPD. The cohortwas assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was commenced and subsequently relevant information was collected at 2, 4 and 5 years later. The median age of the patients at study entry was 44 years (16–64 years), with median disease duration of 11.5 years (4–31 years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral support including 3/12were wheelchair bound.Mean predicted FVC % was 55.7 (95% CI 45–66) of predicted normal at baseline and showed no significant change after 5 years (54.6 (95% CI 43–66)), (all p=0.9815). Mean FVC % supine was 41.8 (95% CI 33.8–49) of predicted normal at baseline and remained significantly unchanged at 5 years (48.4 (95% CI 37–59.6)), (all p = 0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6 min walk test was 411.5 (95% CI 338–485) at baseline, 266.5 (95% CI 187–346) m at 2 years, 238.6 (95% CI 162–315) m at 4 years and 286.8 (95% CI 203–370) m at 5 years (p = 0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5 years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5 years.en© 2016 Elsevier Inc. All rights reserved. Notice : this is the author’s version of a work that was accepted for publication in Molecular Genetics and Metabolism. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Molecular Genetics and Metabolism, vol. 117, pp. 413-418, 2016. doi : 10.1016/j.ymgme.2016.01.013.MyozymeAcid alpha-glucosidase (GAA)Late-onset Pompe disease (LOPD)Enzyme replacement therapy (ERT)Postprint Article