Blog Archives

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, … [Read more]

Myology2019, the sixth edition of the international congress of myology organized by AFM-Telethon, took place in Bordeaux, France, from March 25 to 28. The congress gathered more than 800 researchers and scientific experts from 35 countries worldwide. Seven plenary sessions, 12 parallel sessions, 5 industry symposiums, and more than 400 scientific posters highlighted current issues … [Read more]

Myositis is a heterogeneous group of muscular auto-immune diseases with clinical and pathological criteria that allow the classification of patients into different sub-groups. Inclusion body myositis is the most frequent myositis above fifty years of age. Diagnosing inclusion body myositis requires expertise and is challenging. Little is known concerning the pathogenic mechanisms of this disease … [Read more]

Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system. An American team generated a transgenic mouse model of CMT2A that developed severe early onset vision loss and neurological deficits, axonal … [Read more]

In order to evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes, a team of Danish and French clinicians evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events. The authors included 130 patients, 55 men (42%), with a mean … [Read more]

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of non-spherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, the French clinicians recorded all known French patients with PGK deficiency, and 3 unrelated patients … [Read more]

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. The authors report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, … [Read more]

Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. An international team of experts including clinicians from I-Motion and researchers from the Institute of … [Read more]

Adult tissue repair and regeneration require stem-progenitor cells that can self-renew and generate differentiated progeny. Skeletal muscle regenerative capacity relies on muscle satellite cells (MuSCs) and their interplay with different cell types within the niche. However, the understanding of skeletal muscle tissue cellular composition is limited. Here, using a combined approach of single-cell RNA sequencing … [Read more]