Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

Wenninger, Stephan; Greckl, E.; Babačić, Haris; Ståhl, Kristina; Schöser, Benedikt

doi:10.1007/s00415-018-9112-4

Cited by 23 publications

(48 citation statements)

References 40 publications

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“…Importantly, these gains were maintained during the 12 weeks of detraining (30). A similar increase in maximal inspiratory pressure (strength) of 15.7% at 6 weeks and 26.4% at 52 weeks was reported with progressive inspiratory muscle strength training in 11 LOPD patients (131). There is only one report of respiratory muscle training in IOPD with five patients on full time ventilation requirements and four on parttime requirements (32).…”

Section: Respiratory Training In Lopd Patientssupporting

confidence: 52%

Nutrition and exercise in Pompe disease

Tarnopolsky¹,

Nilsson²

2019

Ann. Transl. Med

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The current standard of care for Pompe disease (PD) is the administration of enzyme replacement therapy (ERT). Exercise and nutrition are often considered as complementary strategies rather than "treatments" per se. Nutritional assessment is important in patients with locomotor disability because the relative hypodynamia limits energy expenditure and thus the total amount of energy must be reduced to avoid obesity. A lower total energy intake often leads to lower protein and micronutrient intake. Consequently, ensuring that Pompe patients are tested for and replaced for deficiencies (protein, vitamin D, vitamin B12, etc.) is an important aspect of care. Furthermore, given the role of autophagy in the pathophysiology of PD and the fact that fasting induces autophagy, it is important that strategies such as nutritional timing and amino acid intake (L-arginine, L-leucine) be evaluated as therapies. Exercise interventions have been shown to improve six-minute walk testing distance by more than what was seen in the seminal ERT study in late-onset PD. Exercise therapy can also activate autophagy, and this is likely another component of its efficacy. The current review will evaluate the theoretical and practical aspects of nutrition and exercise as therapies for patients with PD.

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Section: Respiratory Training In Lopd Patientssupporting

confidence: 52%

Nutrition and exercise in Pompe disease

Tarnopolsky¹,

Nilsson²

2019

Ann. Transl. Med

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“…Nowadays, LOPD is considered as a multisystemic disorder, mainly dominated by the characteristic proximal and axial muscle weakness with a prominent respiratory impairment [7,8]. Patients with Pompe disease have a high risk to require a non-invasive or invasive ventilatory support during the course of their disease [9].…”

mentioning

confidence: 99%

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Gutschmidt¹,

Musumeci

Díaz‐Manera

et al. 2021

J Neurol

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Background Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to determine the real-world long-term efficacy and safety of alglucosidase alfa. Methods This multicenter retrospective study (NCT02824068) collected data from adult Pompe disease patients receiving ERT for at least 3 years. Demographics and baseline characteristics, muscle strength, lung function (FVC), walking capability (6MWT), and safety were assessed once a year. Evaluation was done on the group and individual levels, using quantitative linear models (t test) and general univariate linear models (ANOVA). Findings Sixty-eight adult Pompe disease patients from four countries (Spain, Taiwan, Italy, Germany (STIG)) participated. The mean follow-up was 7.03 years ± 2.98. At group level in all outcome measures, an initial improvement followed by a secondary decline was observed. After 10 years, the 6MWT%pred showed the most sustained positive effect (p = 0.304). The MRC%max remained stable with a mild decline (p = 0.131), however, FVC%pred deteriorated significantly (p < 0.001) by 14.93% over 10 years of ERT. The progression rate of FVC%pred under ERT could be explained in most of the patients (83.5%) by the disease severity at baseline. Furthermore, our study shows a decline in the FVC combined with an increase in non-invasive and invasive ventilation requirements in adult Pompe disease patients over time. Conclusions The STIG real-world study confirms an initial efficacy of ERT in the first years with a secondary sustained decline in multiple outcome measures. Further efforts are required to establish a more valid long-term monitoring and improved therapies.

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“…disease, training, medication) altered the endurance Tlim, and further study is needed on whether tests of threshold loading can longitudinally track changes respiratory muscle function with either progressive disease or in response to therapeutic interventions such as inspiratory muscle training. Indeed, recent reports suggest inspiratory muscle training can lead to strength gains, in some individuals with LOPD 33 , We previously observed that difficult to wean ICU patients who failed to wean after inspiratory muscle training had lower flow/volume ILC that failed to improve with training 34 . We speculate that Tlim and/or ILC tests could help scientists further identify inspiratory flow and volume signatures associated with an incomplete strengthening or functional benefit from inspiratory muscle training 16,31 .…”

Section: Discussionmentioning

confidence: 92%

Dynamic respiratory muscle function in late-onset Pompe disease

Smith

Allen

Mays

et al. 2019

Sci Rep

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Maximal inspiratory pressure (PIMAX) reflects inspiratory weakness in late-onset Pompe disease (LOPD). However, static pressure tests may not reveal specific respiratory muscle adaptations to disruptions in breathing. We hypothesized that dynamic respiratory muscle functional tests reflect distinct ventilatory compensations in LOPD. We evaluated LOPD (n = 7) and healthy controls (CON, n = 7) during pulmonary function tests, inspiratory endurance testing, dynamic kinematic MRI of the thorax, and ventilatory adjustments to single-breath inspiratory loads (inspiratory load compensation, ILC). We observed significantly lower static and dynamic respiratory function in LOPD. PIMAX, spirometry, endurance time, and maximal diaphragm descent were significantly correlated. During single-breath inspiratory loads, inspiratory time and airflow acceleration increased to preserve volume, and in LOPD, the response magnitudes correlated to maximal chest wall kinematics. The results indicate that changes in diaphragmatic motor function and strength among LOPD subjects could be detected through dynamic respiratory testing. We concluded that neuromuscular function significantly influenced breathing endurance, timing and loading compensations.

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Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

Cited by 23 publications

References 40 publications

Nutrition and exercise in Pompe disease

Nutrition and exercise in Pompe disease

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Dynamic respiratory muscle function in late-onset Pompe disease

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