Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

Berg, Linda E.M. van den; Favejee, Marein M.; Wens, S.C.A.; Kruijshaar, Michelle E.; Praet, Stephan; Reuser, Arnold; Bussmann, Johannes B. J.; Doorn, Pieter A. van; Ploeg, Ans T. van der

doi:10.1186/s13023-015-0303-0

Cited by 42 publications

(80 citation statements)

References 30 publications

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“…Beneficial effects of SM could, however, be demonstrated for Morbus Pompe. 12,13 Likewise, this report illustrates beneficial effects of SM for individuals with MPS.…”

Section: Definition Of Pasupporting

confidence: 52%

Rare diseases and sports: A pilot project to improve physical activity in patients with mucopolysaccharidosis

2018

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This article deals with a Workshop (WS) designed for individuals with different kinds of Mucopolysaccharidosis (MPS). Physical activity plays a pivotal role in patient care, combining both somatic and mental effects, aiming to increase quality of life. Individuals with MPS frequently refrain from sports due to physical restrictions. Nine adults and one adolescent affected by different MPS‐types and diverse physical disabilities participated at this WS. The participants were instructed to work in a circuit training (CT) and competed in a warm‐up and cool‐down ball game. Feedback about the exercises and documentation of the individuals’ everyday physical activities (PA) were evaluated with two questionnaires. The results of this evaluation show the importance of physical exercise programs to improve PA. Especially individual adapted elements of endurance, strength and social effects of “team play interactions” are important to promote social participation and personal development for MPS affected individuals. With aid of this pilot project, we want to assist in reducing concerns about physical activity as a source of injury. It could serve as a blueprint for other rare diseases (RD).

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“…Beneficial effects of SM could, however, be demonstrated for Morbus Pompe. 12,13 Likewise, this report illustrates beneficial effects of SM for individuals with MPS.…”

Section: Definition Of Pasupporting

confidence: 52%

Rare diseases and sports: A pilot project to improve physical activity in patients with mucopolysaccharidosis

2018

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“…Satellite cells can be safely and efficiently activated through exercise [ 45 ]. Previous exercise programs in our and other centers were found to be well tolerated by and beneficial for adult Pompe patients [ 11 , 26 , 34 , 44 , 47 , 50 ]. It can be predicted that induced satellite cell activation would be less favorable in untreated classic infantile patients, since these patients display severe pathology directly after birth, and newly regenerated muscle fibers likely develop pathology rapidly.…”

Section: Discussionmentioning

confidence: 97%

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Schaaf

Gestel

Groen

et al. 2018

acta neuropathol commun

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Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa−/− satellite cells to regenerate muscle damage. Gaa−/− mice showed progressive muscle pathology from 15 weeks of age as reflected by increased lysosomal size, decreased fiber diameter and reduced muscle wet weight. Only during the first 15 weeks of life but not thereafter, we detected a gradual increase in centrally nucleated fibers and proliferating satellite cells in Gaa−/− muscle, indicating a mild regenerative response. The levels of Pax7-positive satellite cells were increased in Gaa−/− mice at all ages, most likely as result of enhanced satellite cell activation in young Gaa−/− animals. Surprisingly, both young and old Gaa−/− mice regenerated experimentally-induced muscle injury efficiently as judged by rapid satellite cell activation and complete restoration of muscle histology. In response to serial injury, Gaa−/− mice also regenerated muscle efficiently and maintained the satellite cell pool. These findings suggest that, similar to human patients, Gaa−/− mice have insufficient satellite cell activation and muscle regeneration during disease progression. The initial endogenous satellite cell response in Gaa−/− mice may contribute to the delayed onset of muscle wasting compared to human patients. The rapid and efficient regeneration after experimental muscle injury suggest that Gaa−/− satellite cells are functional stem cells, opening avenues for developing muscle regenerative therapies for Pompe disease.Electronic supplementary materialThe online version of this article (10.1186/s40478-018-0620-3) contains supplementary material, which is available to authorized users.

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“…As far as we are aware, none of our patients were on a prescribed diet or a specific exercise training program. Because these factors might also influence a patient's response to ERT, 28 this could be a specific topic of further study.…”

Section: Discussionmentioning

confidence: 99%

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Harlaar¹,

Hogrel

Perniconi

et al. 2019

Neurology

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ObjectiveTo determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. MethodsIn this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3-to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixedeffects models for repeated measurements. ResultsMedian follow-up duration on ERT was 9.8 years (interquartile range [IQR] 8.3-10.2 years). At the group level, baseline 6MWT was 49% of predicted (IQR 41%-60%) and had deteriorated by 22.2 percentage points (pp) at the 10-year treatment point (p < 0.001). Baseline FVC upright was 54% of predicted (IQR 47%-68%) and decreased by 11 pp over 10 years (p < 0.001). Effects of ERT on MRC sum score and FVC supine were similar. At the individual level, 93% of patients had initial benefit of ERT. Depending on the outcome measured, 35% to 63% of patients had a secondary decline after ≈3 to 5 years. Still, at 10 years of ERT, 52% had equal or better 6MWT and/or FVC upright compared to baseline. ConclusionsThe majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable.Glossary ERT = enzyme replacement therapy; FVC = forced vital capacity; IQR = interquartile range; LOTS = Late-Onset Treatment Study; MEP = maximal expiratory pressure; MIP = maximal inspiratory pressure; MRC = Medical Research Council; M6P = mannose-6-phosphate; pp = percentage points; QMT = quantitative muscle testing; 6MWT = 6-minute walk test.

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Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

Cited by 42 publications

References 30 publications

Rare diseases and sports: A pilot project to improve physical activity in patients with mucopolysaccharidosis

Rare diseases and sports: A pilot project to improve physical activity in patients with mucopolysaccharidosis

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

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