Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

Sarah, Berli; Brandi, Giovanna; Keller, E.; Nadi, Najia; Vitale, Josè; Pagnamenta, Alberto

doi:10.1007/s00415-021-10526-5

Cited by 25 publications

(19 citation statements)

References 42 publications

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“…These results were confirmed in a recent meta-analysis including 413 aLOPD. 10 Surprisingly, the effectiveness of muscle strengthening of aLOPD has received little attention in the literature. 9,23,24 Two studies showed strength gains after muscle strengthening interventions in lower limb muscles.…”

Section: Discussionmentioning

confidence: 99%

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

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Background and objectives:Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme GAA. The late-onset of Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial and proximal extremity muscles. These muscle impairments progressively impair various motor functions such as locomotion and postural control. Nearly 87% of adults with LOPD report walking problems and over 80% report instability and falls. Knowledge of these motor functions is now sufficient to provide a clear and comprehensive overview of motor function in adults with LOPD. Therefore, this scoping review aimed to summarize current knowledge about motor function in adults with LOPD. It specifically targeted neuromuscular performance, locomotion and postural control.Methods:A systematic search in MEDLINE (via PubMed), EMBASE and Cochrane databases was conducted until May 2021. We included studies providing primary data on at least four participants exploring neuromuscular performance, locomotion and/or postural control in adults with LOPD. Risk of bias analysis was assessed using tools appropriate to the study designs; ROB 2.0 for randomized controlled trials, ROBIN-I for non-randomized interventional trials, and NOS for cohort studies and case controls.Results:The search identified 2,885 articles. After screening, 58 articles were included in the analysis. In these studies, 88% explored locomotion, 83% neuromuscular performance and 3% postural control. This review showed that adults with LOPD have symmetrical weakness, concerning especially the hip and lumbar muscles. Locomotor activities are limited with a distance reduction, spatiotemporal gait parameter modification and an increased pelvic drop and tilt. Balance disorders are also observed especially in the anteroposterior direction.Discussion:We performed the first review on motor function characteristics in adults with LOPD. Although a significant amount of knowledge was synthesized in this review, our study also highlighted the lack of current research on this topic. Maximal muscle strength was the only neuromuscular performance studied and gait biomechanics and postural control were poorly explored in LOPD. Relationships between the degree of muscle weakness and motor function alterations also remains to be determined in adults with LOPD.

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Section: Discussionmentioning

confidence: 99%

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

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“…6MWT has long been an easy and comprehensive tool to evaluate the general functional capacity of patients with chronic pulmonary, cardiac, or neuromuscular disease [ 39 ]. It is widely used in patients with Pompe disease and mucopolysaccharidosis (MPS) as a useful clinical endpoint of ERT treatment response [ [40] , [41] , [42] ]. It has also been investigated in a few patients with ASMD.…”

Section: Discussionmentioning

confidence: 99%

Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan

Pan¹,

Tsai²,

Chen³

et al. 2023

Molecular Genetics and Metabolism Reports

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“…in 50% of patients (Supplementary Figure S3), especially in those with longer disease duration. This improvement in motor response peaking 1-3 years after the start of ERT, followed by stabilization, is common to most studies (Anderson et al, 2014;Kuperus et al, 2017;Schoser et al, 2017), and confirmed by recent reviews (Dornelles et al, 2021;Sarah et al, 2021). A recent review (Berli et al, 2021) failed to detect significant changes in FVC, that remained stable during a follow-up ranging 6 months to 7 years in different studies.…”

Section: Main Motor and Respiratory Outcomes: 6mwt And Fvcmentioning

confidence: 64%

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up

Ravaglia¹,

Giuseppe

Carlucci

et al. 2022

Front. Cell Dev. Biol.

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Background: Late-onset Pompe disease (LOPD) is an autosomal-recessive metabolic myopathy caused by deficiency of the lysosomal enzyme Acid Alpha—Glucosidase (GAA), leading to glycogen accumulation in proximal and axial muscles, and in the diaphragm. Enzyme Replacement Therapy (ERT) with recombinant GAA became available in 2006. Since then, several outcome measures have been investigated for the adequate follow-up of disease progression and treatment response, usually focusing on respiratory and motor function. Prognostic factors predicting outcome have not been identified till now.Methods: In this single Centre, prospective study, we evaluate the response to enzyme replacement therapy in 15 patients (7 males) with LOPD in different stages of disease, aged 49.4 ± 16.1, followed-up for 15 years. Treatment response was measured by the 6-min walking test, vital capacity in supine and upright position, respiratory muscle strength, muscle MRI, manual muscle testing. We investigated the usefulness of Body Impedance Vectorial Analysis for serial body composition assessment.Results: Although most patients with LOPD benefit from long-term treatment, some secondary decline may occur after the first 3–5 years. Some nutritional (lower body mass index, higher fat free mass, higher phase angle) and disease parameters (higher creatinine and shorter disease duration at the beginning of treatment) seem to predict a better motor outcome. Lower Phase Angle, possibly reflecting loss of integrity of skeletal muscle membranes and thus treatment mis-targeting, seems to correlate with worse treatment response on long-term follow-up.Conclusion: Body Impedance Vectorial Analysis is a fast, easily performed and cheap tool that may be able to predict long-term treatment response in patients with LOPD. Low Phase angle may serve as a marker of muscle quality and may be used to predict the response to a muscle-targeted intervention such as ERT, thus improving the identification of patients needing a closer follow-up due to higher fragility and risk of deterioration.

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Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

Cited by 25 publications

References 42 publications

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up

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