Item selection for the development and validation of a revised classification criteria for adult and juvenile idiopathic inflammatory myopathies: MyoROC project.

Objective: A revision of the 2017 EULAR-ACR myositis classification criteria, namely EULAR-ACR funded Myositis Revision of Classification (MyoROC) project, is currently underway involving a large international group of experts. In the first phase of this project, we identified additional items to be tested in the criteria.

Methods: We distributed an electronic survey to International Myositis Assessment and Clinical Studies (IMACS) members to identify new items.

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Background And Objectives: In the COMET trial, avalglucosidase alfa treatment for late-onset Pompe disease was safe, tolerable and associated with stabilization or improvement in disease parameters through 97 weeks. We report outcomes in the trial extension through 145 weeks of treatment.

Methods: In this phase 3, double-blind, randomized trial, participants with previously untreated late-onset Pompe disease were randomly assigned to receive 20 mg/kg avalglucosidase alfa or alglucosidase alfa every other week for 49 weeks; thereafter, all patients received 20 mg/kg avalglucosidase alfa every other week.

Efficacy of Intravenous Immunoglobulin for Systemic Manifestations of Dermatomyositis Beyond Muscular and Cutaneous: Sub-analysis of the ProDERM Study.

Introduction: Muscle and skin involvement are well defined in dermatomyositis but other symptoms contribute significantly to the disease burden and their treatment is not well characterized. This post hoc analysis of ProDERM assessed the effect of intravenous immunoglobulin (IVIg) treatment on other manifestations of dermatomyositis beyond muscular and cutaneous involvement.

Methods: ProDERM was a randomized, placebo-controlled study.

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type.

Objective: Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy.

Methods: The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes (DPN) and non-diabetic peripheral neuropathy (cryptogenic sensory polyneuropathy and prediabetes) using cross-sectional observational data. Associations between diabetes or MetS burden and pain presence (yes/no), neuropathy severity (Total Neuropathy Score reduced), and fiber type involvement (pinprick, vibration, and proprioception examination-small, large, mixed) using logistic, linear, and multinomial regression models were determined.

Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.

Introduction/aims: The randomized, double-blind PROPEL study (NCT03729362) suggested benefits for cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) in enzyme replacement therapy (ERT)-experienced adults with late-onset Pompe disease (LOPD). To further assess treatment response and the effect of switching treatment from alg to cipa+mig, we conducted a within-group effect size analysis in ERT-experienced patients.

Methods: In this post hoc analysis, standardized within-group effect sizes (Cohen's d for correlated measurements from baseline to week 52) were calculated by dividing the mean change from baseline by the corresponding standard deviation for motor function, lung function, and muscle strength outcomes; patient-reported outcomes/quality of life; and biomarker levels (creatine kinase and hexose tetrasaccharide).

Consensus nomenclature and abbreviation for anti-synthetase syndrome: an IMACS project.

Objectives: The lack of uniform terminology and abbreviations for anti-synthetase syndrome has led to significant challenges in research and clinical practice. This study aimed to establish an international consensus on a standardized nomenclature and abbreviation among a diverse group of global myositis experts and patient representatives.

Methods: This qualitative project was approved by the International Myositis Assessment and Clinical Studies Group (IMACS).

Standardization of Myasthenia Gravis Outcome Measures in Clinical Practice: A Report of the MGFA Task Force.

Introduction/aims: Myasthenia gravis (MG) specific outcome measures are being used in clinical trials to evaluate therapeutic effectiveness. These validated tools are also becoming a necessity in clinical practice, with payors in the US market often requiring them to be used to monitor disease state. There is considerable variation and subjectivity regarding their use.

A systematic review and meta-analysis of the response to placebo in clinical trials of inclusion body myositis.

Objectives: IBM is characterized by slowly progressive muscle weakness making it challenging to detect significant changes in weakness during a clinical trial. Trial participants receiving placebo may behave differently from in natural history studies. We aimed to quantify the change in muscle strength and IBM Functional Rating Scale (IBMFRS) of IBM patients receiving placebo during clinical trials.

Quantitative muscle magnetic resonance imaging as a biomarker for inclusion body myositis in clinical trials: exploring the in vivo effects of arimoclomol.

Objectives: To investigate the intramuscular effects of arimoclomol using quantitative magnetic resonance imaging (qMRI) of the thighs in a subset of inclusion body myositis (IBM) participants from a multicentre, randomised, double-blind, placebo-controlled trial, and to further evaluate the utility of qMRI assessments as outcome measures.

Methods: Eighteen participants (10 placebo, 8 arimoclomol-treated) were recruited to undergo an MRI at baseline, 12 and 20 months. Spearman correlations between baseline clinical measures and qMRI measurements [fat fraction (FF), remaining muscle area (RMA), magnetisation transfer ratio (MTR), muscle water T2 (T2m) and fat fraction apparent (FFa)] were used to evaluate construct validity.

Challenges in international investigator-led rare disease clinical trials and the case for optimism in inclusion body myositis.

Objectives: This paper aims to provide insight into the challenges and opportunities of conducting an investigator-led, international, multicentre clinical trial for Inclusion Body Myositis (IBM), a rare inflammatory myopathy.

Methods: An international, multicentre, randomised, controlled trial of a repurposed drug (sirolimus) was initiated based on promising results from a mono-centric pilot study. The progress of the trial was analysed to identify key challenges encountered and solutions developed.

Optimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale.

Objectives: Inclusion body myositis (IBM) is a complex inflammatory muscle disease in adults over 40, with histological features of autoinflammation, cell stress and autophagic abnormalities, and marked clinically by relentless progression with no effective disease-modifying therapy. Sirolimus (rapamycin) may help maintain function by inhibiting T effector cells, preserving T regulatory cells, inducing autophagy, and improving mitochondrial function. This international trial follows a phase II pilot study.

Imaging evaluation of the upper limbs in inclusion body myositis: an unmet need.

Inclusion body myositis (IBM) is an acquired myopathy belonging to the spectrum of idiopathic inflammatory myopathies. It commonly presents in individuals aged above 50 years of age. Characteristic clinical features of IBM include weakness of the quadriceps and finger flexors.

Predictors of response to intravenous immunoglobulin in patients with dermatomyositis: the ProDERM study.

Objectives: The phase 3 ProDERM study demonstrated intravenous immunoglobulin (IVIg) was safe and effective in patients with dermatomyositis (DM). This analysis assessed clinical and serological predictors of IVIg response in DM patients from ProDERM.

Methods: ProDERM was a prospective, randomized, placebo-controlled study of DM patients.

Resistance exercise in early-stage ALS patients, ALSFRS-R, Sickness Impact Profile ALS-19, and muscle transcriptome: a pilot study.

Amyotrophic lateral sclerosis (ALS) patients lack effective treatments to maintain motor and neuromuscular function. This study aimed to evaluate the effect of a home-based exercise program on muscle strength, ALS scores, and transcriptome in ALS patients, Clinical Trials.gov #NCT03201991 (28/06/2017).

Electrodiagnostic subtyping in Guillain-Barré syndrome patients in the International Guillain-Barré Outcome Study.

Background And Purpose: Various electrodiagnostic criteria have been developed in Guillain-Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria.

Collaborative research in myositis-related disorders: MIHRA, a global shared community model.

Myositis International Health and Research Collaborative Alliance (MIHRA) is a newly formed purpose-built non-profit charitable research organization dedicated to accelerating international clinical trial readiness, global professional and lay education, career development and rare disease advocacy in IIM-related disorders. In its long form, the name expresses the community's scope of engagement and intent. In its abbreviation, MIHRA, conveys linguistic roots across many languages, that reflects the IIM community's spirit with meanings such as kindness, community, goodness, and peace.

Phenotypic spectrum of inclusion body myositis.

Inclusion body myositis (IBM) is a progressive, debilitating muscle disease commonly encountered in patients over the age of 50. IBM typically presents with asymmetric, painless, progressive weakness and atrophy of deep finger flexors and/or quadriceps muscle. Many patients with IBM develop dysphagia.

Performance of the 2017 EULAR/ACR Classification Criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a scoping review.

The 2017 EULAR/ACR classification criteria for adult/juvenile idiopathic inflammatory myopathies (IIM) were established using a data-driven approach by an international group of myositis experts to allow classification of IIM and its major subtypes. Since their publication, the performance of the criteria has been tested in multiple cohorts worldwide and significant limitations have been identified. Moreover, the understanding and classification of IIM have evolved since 2017.