Myology research highlights

The 22nd edition of the International Congress of the World Muscle Society was held from October 3rd to 7th, 2017 in Saint-Malo. For the first time ever, the World Muscle Society International Annual Congress (WMS), the annual reference congress on neuromuscular diseases, was held in France, in Saint Malo, from October 3rd to 7th,  2017. … [Read more]

  In the Phase 3 DELOS trial in patients with DMD, idebenone reduced the loss of peak expiratory flow and FVC compared to placebo. Here, post-hoc analyses were conducted to assess whether treatment with idebenone could reduce the risk of patients dropping below clinically meaningful thresholds of FVC% p. The change over 1 year in … [Read more]

  Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression … [Read more]

An international collaboration including researchers from the Institute of Myology identified 5 biological markers of the evolution and severity of CMT1A. Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for … [Read more]

Brain function is compromised in myotonic dystrophy type 1 (DM1), but the underlying mechanisms are not fully understood. To gain insight into the cellular and molecular pathways primarily affected, the authors studied a mouse model of DM1 and brains of adult patients. They found pronounced RNA toxicity in the Bergmann glia of the cerebellum, in … [Read more]

Previously, detection of ANO5 protein has been complicated by unspecific antibodies, most of which have not identified the correct protein. The aims of the study were to specify ANO5 protein expression in human skeletal muscle, and to investigate if the ANO5 protein levels are affected by different ANO5 mutations in anoctaminopathy patients. Four different antibodies … [Read more]

SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 … [Read more]

Dysferlinopathy is an autosomal recessive muscular dystrophy characterized by the progressive loss of motility that is caused by mutations throughout the DYSF gene. There are currently no approved therapies that ameliorate or reverse dysferlinopathy. Gene delivery using adeno-associated vectors (AAVs) is a leading therapeutic strategy for genetic diseases; however, the large size of dysferlin cDNA … [Read more]

September 7 is World Duchenne Awareness Day, the opportunity to highlight the disease. More than 30 years after the discovery of the gene responsible for the disease, treatments are advancing. The AFM-Telethon’s emblematic disease. Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in children. The Telethon’s adventure began with DMD. Yolaine de Kepper, … [Read more]

Due to the negative results of the Phase III trial of sialic acid extended-release in GNE myopathy, Ultragenyx will halt the development of this molecule. For several years now, Ultragenyx has been working on the development of a sialic acid extended-release tablets for the treatment of GNE myopathy, distal myopathies related to abnormalities of an … [Read more]