Efficacy and safety of subcutaneous abatacept + standard treatment for active idiopathic inflammatory myopathy: phase III randomised controlled trial.

Objective: To evaluate the efficacy and safety of subcutaneous (SC) abatacept and standard of care (SOC) for the treatment of idiopathic inflammatory myopathy (IIM) over 52 weeks.

Methods: In this randomised, double-blind, placebo-controlled phase III trial, patients with treatment-refractory IIM received SC abatacept (125 mg weekly) + SOC (abatacept group) or placebo + SOC (placebo group) (NCT02971683). A 24-week double-blind period was followed by an open-label period to assess outcomes from continued therapy with abatacept and initiation with abatacept (placebo-to-abatacept switch group) from 24 to 52 weeks.

A 40-week phase 2B randomized, multicenter, double-blind, placebo-controlled study evaluating the safety and efficacy of memantine in amyotrophic lateral sclerosis.

Introduction: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with no known cure, limited treatment options with minimal benefits, and significant unmet need for disease modifying therapies.

Aims: This study investigated memantine's impact on ALS progression, with an additional focus on the effects of memantine on cognitive and behavioral changes associated with the disease.

Methods: A randomized, double-blind, placebo-controlled clinical trial was conducted from December 2018 to September 2020.

The impact of patients' pre-treatment expectations on immunosuppressive treatment outcomes in myasthenia gravis: A pilot correlational study.

Introduction/aims: The impact of treatment expectations on active treatment outcomes has not been specifically investigated in neuromuscular disorders. We thus explored in myasthenia gravis (MG) the contribution of patients' pre-treatment expectations combined with an immunosuppressant drug on treatment outcomes.

Methods: This pilot correlational study involved 17 patients with generalized MG, scheduled to start immunosuppressant azathioprine.

Placebo and nocebo responses in painful diabetic neuropathy: systematic review and meta-analysis.

This preregistered (CRD42021223379) systematic review and meta-analysis aimed to characterize the placebo and nocebo responses in placebo-controlled randomized clinical trials (RCTs) on painful diabetic neuropathy (PDN), updating the previous literature by a decade. Four databases were searched for PDN trials published in the past 20 years, testing oral medications, adopting a parallel-group design. Magnitude of placebo or nocebo responses, Cochrane risk of bias, heterogeneity, and moderators were evaluated.

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Background And Objectives: We investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States and Canada.

Methods: All successive patients presenting with proximal muscle weakness or isolated hyperCKemia and/or neck muscle weakness to these 13 centers were invited to participate in the study. Whole blood was tested for acid alpha-glucosidase (GAA) assay through the fluorometric method, and all cases with enzyme levels of ≤10 pmoL/punch/h were reflexed to molecular testing for mutations in the GAA gene.

Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center.

Genetic testing is an effective and reliable modality in clinical neuromuscular diagnosis. The recent developments in testing methods and increasing reliance on genetic testing in clinical practice require more studies to examine the benefits and advantages of such tests. We examined the results of single-gene sequencing/repeat analysis, panels, and whole-genome sequencing (WES) of 514 tests of 393 patients.

Patient preference for virtual versus in-person visits in neuromuscular clinical practice.

Introduction/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.

COVID-19 Outcomes in Myasthenia Gravis Patients: Analysis From Electronic Health Records in the United States.

Background: Myasthenia gravis (MG) is an autoimmune, neuromuscular condition and patients with MG are vulnerable due to immunosuppressant use and disease manifestations of dyspnea and dysphagia during the coronavirus disease 2019 (COVID-19) pandemic.

Methods: We conducted a retrospective cohort study using the Optum de-identified COVID-19 Electronic Health Record (EHR) dataset. Primary outcomes, such as hospitalization, ventilator use, intensive care unit (ICU) admission, and death in COVID-19 patients with MG, were compared with those of COVID-19 patients without MG: the subgroups of non-MG included those with rheumatoid arthritis (RA), systemic lupus (SLE), and multiple sclerosis (MS).

Thirty Years of Neuroscientific Investigation of Placebo and Nocebo: The Interesting, the Good, and the Bad.

Over the past 30 years there has been a surge of research on the placebo effect using a neuroscientific approach. The interesting aspects of this effort are related to the identification of several biological mechanisms of both the placebo and nocebo effects, the latter of which is defined as a negative placebo effect. Some important translational implications have emerged both in the setting of clinical trials and in routine medical practice.

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.

Objective: To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members.

Methods: We performed clinical assessment of 3 patients and collected detailed clinical and family history data on 8 additional patients. We conducted molecular genetic analyses on 5 patients using comprehensive neuromuscular disorder panels, exome sequencing (ES), and targeted testing for specific genetic variants.

Adult-Onset Spinal Muscular Atrophy due to Mutations in the Gene.

Objective: To expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 () gene mutations.

Methods: We present clinical and molecular data of 2 individuals with slowly progressive weakness and a clinical syndrome consistent with adult-onset spinal muscular atrophy without pontocerebellar atrophy.

Results: Genetic testing revealed likely pathogenic variants in the gene in both subjects.

Gene therapy for diabetic peripheral neuropathy: A randomized, placebo-controlled phase III study of VM202, a plasmid DNA encoding human hepatocyte growth factor.

VM202 is a plasmid DNA encoding two isoforms of hepatocyte growth factor (HGF). A previous phase II study in subjects with painful diabetic peripheral neuropathy (DPN) showed significant reductions in pain. A phase III study was conducted to evaluate the safety and efficacy of VM202 in DPN.

Understanding the mechanisms of placebo and nocebo effects.

Although placebos have long been considered a nuisance in clinical research, over recent years they have become an active and productive field of research. Indeed, the placebo effect represents an elegant model to understand how the brain works. It is worth knowing that there is not a single but many placebo effects, with different mechanisms across different systems, medical conditions and therapeutic interventions.

Refractory Chronic Immune-mediated Demyelinating Polyneuropathy.

Please verify term, "alternative". Chronic immune-mediated demyelinating polyneuropathy (CIDP) is a treatable immune-related demyelinating polyneuropathy. Approximately 20% of cases do not respond to first-line therapies; most of these cases are due to alternative diagnoses, although some of them are due to severe CIDP.

Minimal manifestation status and prednisone withdrawal in the MGTX trial.

Objective: To examine whether sustained minimal manifestation status (MMS) with complete withdrawal of prednisone is better achieved in thymectomized patients with myasthenia gravis (MG).

Methods: This study is a post hoc analysis of data from a randomized trial of thymectomy in MG (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy [MGTX]). MGTX was a multicenter, randomized, rater-blinded 3-year trial that was followed by a voluntary 2-year extension for patients with acetylcholine receptor (AChR) antibody-positive MG without thymoma.

Nocebo and the contribution of psychosocial factors to the generation of pain.

The biopsychosocial model claims that illness is generated by biological, psychological, and social factors. The nocebo response, particularly nocebo hyperalgesia, is an excellent model and approach to understand these effects and their psychophysiological underpinnings, as nocebos are made of negative psychological and social factors, such as negative expectations and social interactions. There is today experimental evidence that nocebos can create symptoms and illness from nothing, in particular pain, whereby a combination of biological, psychological and social factors interact with each other in the generation of the global painful experience.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Background: Inclusion body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people older than 50 years. To date, there are no effective drug treatments. We aimed to assess the safety, efficacy, and tolerability of bimagrumab-a fully human monoclonal antibody-in individuals with inclusion body myositis.

Safety and tolerability of lacosamide monotherapy in the elderly: A subgroup analysis from lacosamide trials in diabetic neuropathic pain.

Objective: To assess the safety profile of lacosamide monotherapy in elderly (≥65 years) subjects with diabetic neuropathic pain (DNP).

Methods: Of 1,863 DNP subjects in double-blind, randomized, placebo-controlled trials of lacosamide monotherapy (NCT00861445, NCT00235469, NCT00238524, NCT00135109, NCT00350103), 502 were elderly. Safety data from elderly subjects were compared with that of younger subjects (<65 years) within these DNP trials.

Swallowing-induced Supraventricular Tachyarrhythmia.

Swallowing-induced supraventricular tachyarrhythmia is an extremely rare entity with unclear pathophysiology. A 55-year-old man presented with a 2-year history of worsening presyncopal symptoms triggered only by drinking liquids of any temperature. Results of a physical examination were unremarkable except for reproducible atrial tachycardias to 180 to 210 beats/minute documented on rhythm strips when the patient was given water to drink.

Fulminant spinal cord compression caused by postradiation inflammatory pseudotumor with rapid response to steroids: case report.

Radiation therapy continues to play an extremely valuable role in the treatment of malignancy. The effects of radiation therapy on normal tissue can present in a delayed fashion, resulting in localized damage with pseudomalignant transformation, producing a compressive effect on the spinal cord or exiting nerve roots. Infiltration of inflammatory cells and the subsequent fibrotic response can result in the development of an inflammatory pseudotumor (benign tumor-like lesion) with subsequent mass effect.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest.