Blog Archives

  Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging … [Read more]

Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients’ muscle biopsies. The authors report here the … [Read more]

The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. The aim of this study was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. The authors identified patients from the French Pompe … [Read more]

In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. A group of french experts supported by AFM-Telethon, involving researchers and clinicians from the Institute, selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the … [Read more]

  In 2016, the US Food and Drug Administration (FDA) conditionally approved the first phosphorodiamidate morpholino oligomer (morpholino)-based antisense oligonucleotides (AOs) drug, eteplirsen, developed for DMD exon 51 skipping. Eteplirsen remains controversial with insufficient evidence of its therapeutic effect in patients. Here, the authors designed morpholino AOs targeting DMD exon 51 using their recently developed … [Read more]

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]