Blog Archives

The STR1VE-EU trial evaluated the safety and efficacy of a single intravenous infusion of Zolgensma (onasemnogene abeparvovec) in 33 infants with SMN1-related proximal spinal muscular atrophy (SMA) type 1, presenting one or two copies of the SMN2 gene and aged under 6 months. The results of this trial, published in October 2021, show that: 97% … [Read more]

European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type 2CC). An analysis of the clinical and laboratory data shows that: the first impairments, essentially motor in nature, appear in the patients’ 30s, but progress quickly to a situation of … [Read more]

Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening. A group of French clinicians and biologists have identified a group of 13 patients who are carriers of a recurrent mutation in the RYR1 gene. An analysis … [Read more]

The occurrence of interstitial lung disease in the progression of a systemic disease (also known by the term “connectivitis”) is a complication that is feared because of its potentially fatal outcome. Among the muscular diseases, this particularly applies to antisynthetase syndrome and to certain cases of dermatomyositis. A group of Japanese experts, consisting of internists, … [Read more]

The intrathecal administration of nusinersen (Spinraza) can prove problematic in patients with SMN1 gene-related proximal spinal muscular atrophy (SMA) due to spinal deformation that is either pre-existing or acquired during treatment. American clinicians have put in place, experimentally, a catheter linking the spinal canal to an implanted subcutaneous chamber, thus facilitating iterative injections of this … [Read more]

• Ataluren, a medicine that targets DMD gene stop codon-type abnormalities, approved in Europe in Duchenne muscular dystrophy, is the subject of new results with respect to walking, upper limb mobility and breathing, based on real-life data from the STRIDE registry and a retrospective Swedish study • The results show that ataluren delays the loss … [Read more]

• A prospective and retrospective analysis of the effects of eteplirsen has been conducted over a total period of 7 years, via 3 successive clinical trials among 12 participants with DMD; the third trial involved 10 of these participants and was conducted in a real-life setting with routine clinical follow up. • The results showed: … [Read more]