Myology research highlights
RSS feedThe phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy
Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to Myoshi distal myopathy, the phenotype spectrum was rapidly extended to pure proximal forms such as limb-girdle muscular dystrophy (LGMD) R2, and especially to mixed proximal/distal forms. Dysferlinopathy is transmitted in … [Read more]
Identification of a slow and gradual decline in muscle strength in GNE myopathy and tailored tools to evaluate it
Characterised by distal muscle weakness, GNE myopathy (also known as Nonaka myopathy, hereditary inclusion body myositis, distal myopathy with rimmed vacuoles or quadriceps-sparing myopathy) is caused by abnormalities in the GNE gene, which codes an enzyme involved in sialic acid biosynthesis. To date, only two natural history studies of this disease have been published, one … [Read more]
A new functional scale adapted to LGMD, in particular to dysferlinopathies
Functional scales are very useful in neuromuscular diseases (NMD), for monitoring NMD patients as well as in therapeutic trials where they can be used as outcome measures. They can be generic, such as the measurement of motor function (MFM), or specific to certain diseases or groups of NMD, such as Duchenne muscular dystrophy or spinal … [Read more]
Reldesemtiv, which does not affect the production of SMN, is effective in type II, III and IV SMA
Reldesemtiv (CK-2127107) is an activator of skeletal muscle troponin, a calcium-sensitive sarcomere protein. By slowing the rate of calcium release in skeletal muscles, it improves their contractility. Several trials realized in healthy volunteers against placebo have showed its good tolerance and its effectiveness on muscle strength; it is being studied as a potential treatment for … [Read more]
MDA clinical and scientific conference: organized online from March 15 to 18, 2021
This year, the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference brought together more than 1,200 participants and 100 speakers “online” from March 15 to 18, 2021. Connected to a virtual platform, everyone could follow videoconferences or watch e-posters on research and development, treatment of neuromuscular diseases, the impact of Covid-19 on neuromuscular diseases. Several … [Read more]
Juvenile dermatomyositis: each specific auto-antibody has its own clinical picture
Juvenile dermatomyositis is the most common inflammatory myopathy in children. In its typical form, it causes as skin lesions and predominantly proximal symmetrical bilateral muscle weakness. Other symptoms (digestive, joint, pulmonary, etc.) can occur and the expression of the disease appears, in fine, quite heterogeneous. A study carried out in Germany confirms this great diversity … [Read more]
Two cohort studies in CMT 2A
Charcot-Marie-Tooth disease type 2A (CMT 2A) is one of the most common axonal forms of CMT. It is characterized by great clinical heterogeneity (age of onset of symptoms, severity of the condition, existence of visual, hearing impairment, etc.) and genetic (many abnormalities in the MFN2 gene identified, dominant and recessive transmission possible). The Inherited Neuropathy … [Read more]
A French team is developing an effective preclinical approach in CMT 1A by combining siRNA and squalene nanoparticles
Type 1A Charcot-Marie-Tooth disease is the most common form of CMT. It is due to a duplication of the PMP22 gene causing overexpression of the PMP22 protein which accumulates in Schwann cells, which disrupts the myelin sheath and slows the transmission of nerve impulses. French researchers have developed a new approach with a small interfering … [Read more]
In LGMD R4 related to β-sarcoglycane, SRP-9003 gene therapy appears to be well tolerated and to have promising efficacy
Intermediate outcomes of the phase I / II gene therapy trial with SRP-9003 (scAAVrh74.MHCK7.hSGCB) in children with LGMDR4 linked to β-sarcoglycan (ex-LGMD2E), aged 4 to 13 years, were announced at the annual conference of MDA, the American Muscular Dystrophies Association. This 3-year, single-injection, intravenous infusion safety trial of SRP-9003 tested the tolerance of a first … [Read more]
Risdiplam (Evrysdi): the third treatment for SMA authorized in Europe
SMA, that had no long-term treatment so far, has experienced an unprecedented therapeutic revolution in recent years: an antisense oligonucleotide (nusinersen or Spinraza®), a gene therapy product (onasemnogene abeparvovec or Zolgensma ®) and now an oral treatment, risdiplam (Evrysdi ™), now constitutes an innovative therapeutic arsenal for patients with SMA. In fact, the European Commission … [Read more]
