Semin Respir Crit Care Med
December 2024
Background: The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of interventions. Studies of patients with late-onset Pompe disease (LOPD) have used the 6-min walk distance (6MWD) as an endpoint to assess motor function. However, an MCID for 6MWD (% predicted and meters) has yet to be established in LOPD.
View Article and Find Full Text PDFIntroduction/aims: The CHAMPION MG study demonstrated that ravulizumab significantly improved Myasthenia Gravis-Activities of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) total scores versus placebo in adults with acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR+ gMG). This post hoc analysis aimed to assess these outcomes by time from MG diagnosis.
Methods: Changes from baseline to week 26 in MG-ADL and QMG total scores were analyzed by time from MG diagnosis to study entry (≤2 vs.
Importance: In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent predicted and 6-minute walk test (6MWT) compared with alglucosidase alfa.
Objective: To report avalglucosidase alfa treatment outcomes during the COMET trial extension.
Design, Setting, And Participants: This phase 3 double-blind randomized clinical trial with crossover in the extension period enrolled patients 3 years and older with previously untreated late-onset Pompe disease (LOPD) between November 2, 2016, and February 10, 2021, with primary analysis after 49 weeks.
Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP-associated MSP have myopathy, but there is no consensus-based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe.
View Article and Find Full Text PDFBackground: Valosin-containing protein (VCP) disease, caused by mutations in the gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in gene and investigates genotype-phenotype correlations.
View Article and Find Full Text PDFIntroduction/aims: It is unknown if patients with neuromuscular diseases prefer in-person or virtual telemedicine visits. We studied patient opinions and preference on virtual versus in-person visits, and the factors influencing such preferences.
Methods: Telephone surveys, consisting of 11 questions, of patients from 10 neuromuscular centers were completed.
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy specifically designed for enhanced mannose-6-phosphate-receptor targeting and enzyme uptake aimed at increased glycogen clearance, compared with the current approved standard of care, alglucosidase alfa, in patients with late-onset Pompe disease.
Methods: We did a randomised, double-blind, phase 3 trial at 55 sites in 20 countries.
The COVID-19 pandemic has a disruptive effect on neurology education, necessitating creative adjustments in the delivery of education, clinical training, and well-being. In this article, a group of educators reflects on challenges and lessons learned on teaching, well-being, and telemedicine, and how these can shape the future of neurology education. Developing standardized, rigorous evaluation of teaching methods and telemedicine, reinforcing well-being resources, and promoting international educational collaborations can improve neurology training during and after the pandemic.
View Article and Find Full Text PDFNovel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied.
View Article and Find Full Text PDFNeurol Clin
November 2020
Channelopathies, neuromuscular junction disorders, and myopathies represent multiple mechanisms by which toxins can affect the peripheral nervous system. These toxins include ciguatoxin, tetrodotoxin, botulinum toxin, metabolic poisons, venomous snake bites, and several medications. These toxins are important to be aware of because they can lead to serious symptoms, disability, or even death, and many can be treated if recognized ear.
View Article and Find Full Text PDFImportance: Cryptogenic sensory polyneuropathy (CSPN) is a common generalized slowly progressive neuropathy, second in prevalence only to diabetic neuropathy. Most patients with CSPN have significant pain. Many medications have been tried for pain reduction in CSPN, including antiepileptics, antidepressants, and sodium channel blockers.
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