Myology research highlights

A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4 years in Italy (2), the UK (1) and Israel (1). In this study: •  The four women received treatment at ages 9, 26, 29 and 43 years and for an … [Read more]

Limb-girdle muscular dystrophy R9 (LGMDR9) is caused by a deficiency of FKRP. FKRP allows the addition of ribitol-5-phosphate, a molecule made from ribitol, to the sugar chain already formed by the action of other enzymes. Oral intake of BBP-418 (ribitol) is intended to increase glycosylation of α-dystroglycan by saturating FKRP with substrate. A Phase I … [Read more]

High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also to uncover digenism phenomena as demonstrated by a Chinese study in which : 189 families with a phenotype compatible with Charcot-Marie-Tooth disease (CMT) were explored in NGS, with a prior … [Read more]

An international consortium including clinicians, patient organization representatives and members of the Roche laboratory conducted a study to assess the relevance and significance of the MFM32, a functional score widely used in neuromuscular diseases and SMA in particular: semi-structured interviews were conducted with 40 SMA patients and 217 other patients participated in an online survey … [Read more]

Polish specialists report the results of an experimental study involving home measurement of spirometric parameters. The medical team collected these data over a period of three months using an electronic spirometer linked by telematics to a central platform : 21 patients with Duchenne muscular dystrophy (DMD) aged 2 to 22 years, half of them in … [Read more]

Amino acids (leucine/valine/isoleucine), codenamed TK-98, could be an adjuvant to conventional corticosteroid treatment of myositis and combat the muscle atrophy associated with it. Japanese researchers tested their efficacy in a randomized placebo-controlled trial conducted over three months and followed by an open-label phase  47 patients with polymyositis or dermatomyositis participated, a modest gain was observed … [Read more]

Myasthenia gravis with positive autoantibodies against the protein MuSK, a muscle-specific tyrosine kinase, is distinct from other forms of myasthenia gravis by the frequency of bulbar involvement. Electrophysiologically detectable myotonia could be a manifestation of this, as reported in two original observations: the first one concerns a 53-year-old patient with classic myasthenic symptoms and signs … [Read more]

According to 4 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) or axonal (CMT 2D) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have built a gene therapy product incorporating the FIG4 … [Read more]

Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which have in common that they are linked to the same pathological nucleotide expansion of the CGG type. The RILPL1 gene: was identified through the study, by sequencing of long fragments, … [Read more]