Myology research highlights

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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]

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]