Myology research highlights
RSS feedDevelopment of arimoclomol stops in inclusion body myositis
With a prevalence of 1 in 200,000 in Europe, inclusion body myositis is the most common idiopathic myositis after the age of 50. It is characterized by an often asymmetric muscle involvement with amyotrophy and begins in the quadriceps and / or flexors of the fingers. Muscle biopsy shows two phenomena: inflammation and degeneration with … [Read more]
STR1VE results confirm efficacy of Zolgensma in type I SMA
The STR1VE clinical trial was set up following the positive results of the first trial concerning Zolgensma (onasemnogene abeparvovec) which evaluated its efficacy in 15 participants with type I SMA aged less than 6 months. In this new american, phase III, open-label clinical trial, 22 participants with type I SMA presenting one or two copies … [Read more]
A low level of anti-AAV9 antibodies makes most very young patients with SMA eligible for Zolgensma
Pre-existing immunity against adeno-associated viruses (AAVs), which are naturally very widespread, is one of the obstacles to gene therapy using such a vector. Zolgensma (onasemnogene abeparvovec), a gene therapy authorized in SMA, is in particular composed of an AAV9. When setting up clinical trials with Zolgensma, young participants whose anti-AAV9 antibody level exceeded 1:50 were … [Read more]
Life expectancy is increasing for DMD thanks to the angiotensin-converting enzyme (ACE) inhibitors
In Duchenne muscular dystrophy (DMD), heart involvement leads to heart failure. Angiotensin-converting enzyme (ACE) inhibitors are routinely prescribed at around 10 years of age for prevention. A French retrospective study initiated by Prof. Karim Wahbi, Professor of Cardiology at the Cochin Hospital and the Institute of Myology (Paris), relating to a cohort of boys with … [Read more]
The 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]
