Effectiveness of enzyme replacement therapy in adults with late‐onset Pompe disease: results from the NCS‐LSD cohort study

Anderson, Lindsey; Henley, William; Wyatt, Katrina; Nikolaou, Vasilis; Waldek, S.; Hughes, D.A.; Lachmann, Robin; Logan, Stuart

doi:10.1007/s10545-014-9728-1

Cited by 54 publications

(63 citation statements)

References 30 publications

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“…An increase in respiratory rate during the CPET (data not shown) could allow the patients to increase their peak VO2 despite a worsening of respiratory muscles' function. These observations are in agreement with previous studies performed in large samples of patients, which showed that the effects of ERT are less evident on respiratory than on peripheral muscles [12,26,27].…”

Section: Discussionsupporting

confidence: 93%

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Crescimanno

Modica

Mauro

et al. 2015

Neuromuscular Disorders

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Section: Discussionsupporting

confidence: 93%

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Crescimanno

Modica

Mauro

et al. 2015

Neuromuscular Disorders

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“…*In (a) patient numbers represent the total number of patients included in the studies reporting results at group level for the respective outcome measures (see for details Table ), while in (b) only those who actually performed the respective tests are included. Individual responses were not reported for the 6‐MWT and (F)VC in studies and , and for strength not in , and .…”

Section: Resultsmentioning

confidence: 99%

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Ploeg

Kruijshaar

Toscano

et al. 2017

Euro J of Neurology

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127

100

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“…Many of those studies followed up patients for 1 year [24], 3 years [17,18,42] and 4 years [19]. All publications pointed out the difficulties to obtain consistent outcome measures in LOPD patients due to heterogeneous presentation of the disease and natural course and the high variability of individual response.…”

Section: Discussionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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Pompe 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. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was com-menced 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 sup-port including 3/12 were 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.

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Effectiveness of enzyme replacement therapy in adults with late‐onset Pompe disease: results from the NCS‐LSD cohort study

Abstract: The results of this longitudinal cohort study of 62 adults with late-onset Pompe disease, provide further evidence on the effectiveness of ERT in this rare condition.

Cited by 54 publications

References 30 publications

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

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