Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Chien, Yin‐Hsiu; Hwu, Wuh‐Liang; Lee, Ni‐Chung; Tsai, Fuu Jen; Koeberl, Dwight D.; Tsai, Wen Hui; Chiu, Pao Chin; Chang, Chaw-Liang

doi:10.1016/j.ymgmr.2017.04.004

Cited by 9 publications

(4 citation statements)

References 22 publications

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“…This suggests that the improved grip strength in salbutamol treated ColQ −/− animals cannot be readily explained by an anabolic effect on skeletal muscle. This is consistent with the lack of evidence of clinical benefit of sympathomimetic treatment in myopathies and muscular dystrophies (20,21,66,67). Since both the structure and function of the NMJs is abnormal in ColQ −/− mice (34), we turned our attention to the possibility that salbutamol may act to enhance muscle activation by action on the NMJs.…”

Section: Discussionsupporting

confidence: 84%

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

McMacken

Spendiff

Whittaker

et al. 2019

Human Molecular Genetics

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The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the mechanisms underlying this clinical benefit are unknown and improved understanding of the effect of adrenergic signalling on the neuromuscular junction is essential to facilitate the development of more targeted therapies. Here, we investigated the effect of salbutamol treatment on the neuromuscular junction in the ColQ deficient mouse, a model of end-plate acetylcholinesterase deficiency. ColQ−/− mice received 7 weeks of daily salbutamol injection, and the effect on muscle strength and neuromuscular junction morphology was analysed. We show that salbutamol leads to a gradual improvement in muscle strength in ColQ−/− mice. In addition, the neuromuscular junctions of salbutamol treated mice showed significant improvements in several postsynaptic morphological defects, including increased synaptic area, acetylcholine receptor area and density, and extent of postjunctional folds. These changes occurred without alterations in skeletal muscle fibre size or type. These findings suggest that β-adrenergic agonists lead to functional benefit in the ColQ−/− mouse and to long-term structural changes at the neuromuscular junction. These effects are primarily at the postsynaptic membrane and may lead to enhanced neuromuscular transmission.

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Section: Discussionsupporting

confidence: 84%

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

McMacken

Spendiff

Whittaker

et al. 2019

Human Molecular Genetics

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“…For GSD III, a high protein diet has been reported to improve cardiomyopathy [90]. Recently, it has been shown that albuterol could be an adjunctive therapy for patients with EOPD, although the overall benefit seems to be limited [91].…”

Section: Carbohydrate Metabolismmentioning

confidence: 99%

Update Review about Metabolic Myopathies

Finsterer

2020

Life

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The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during exercise. Though limb and respiratory muscles are most frequently affected, facial, extra-ocular, and axial muscles may be occasionally also involved. Age at onset and prognosis vary considerably. There are multiple disease mechanisms and the pathophysiology is complex. Genes most recently related to metabolic myopathy include PGM1, GYG1, RBCK1, VMA21, MTO1, KARS, and ISCA2. The number of metabolic myopathies is steadily increasing. There is limited evidence from the literature that could guide diagnosis and treatment of metabolic myopathies. Treatment is limited to mainly non-invasive or invasive symptomatic measures. In conclusion, the field of metabolic myopathies is evolving with the more widespread availability and application of next generation sequencing technologies worldwide. This will broaden the knowledge about pathophysiology and putative therapeutic strategies for this group of neuromuscular disorders.

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“…Hearing loss is also documented and may further impact speech [48] but does not fully explain the degree of speech impairment observed in affected patients [46]. Early diagnosis with early initiation of ERT [49], high-dose regimens of ERT [3,50], and adjunctive treatments like physical therapy and beta-2 adrenergic agonists [51] often result in improvements or stabilization of motor and pulmonary function. However, dysarthria frequently appears to remain.…”

Section: Discussionmentioning

confidence: 99%

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Crisp

Neel

Amarasekara

et al. 2021

JCM

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Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize the vocal function of children with Pompe disease using auditory-perceptual and physiologic/acoustic methods. High-quality voice recordings were collected from 21 children with Pompe disease. The Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale was used to assess voice quality and ratings were compared to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume. Based on ratings of grade, dysphonia was present in 90% of participants and was most commonly rated as mild or moderate in severity. Duration of sustained phonation tasks was reduced and shimmer was increased in comparison to published reference values for children without dysphonia. Specific measures of loudness were found to have statistically significant relationships with perceptual ratings of grade, breathiness, asthenia, and strain. Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function; however, the primary cause of dysphonia remains unclear. Future studies should seek to quantify the relative contribution of deficits in individual speech subsystems on voice quality and motor speech performance more broadly.

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Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Cited by 9 publications

References 22 publications

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

Update Review about Metabolic Myopathies

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

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