Myology research highlights
RSS feedA new type of complication related to SMA gene therapy
Italian clinicians report the case of a three-year-old child with SMA type 1 who developed hemophagocytic lymphohistiocytosis (HLH) three days after an intravenous injection of onasemnogène aboparvovec (Zolgensma®). This rare immune complication was characterized by fever, skin rash, hepatosplenomegaly and biological disturbances (hypoplaketosis, leukopenia, increased LDH and D-dimer). The whole picture fulfilled the diagnostic criteria … [Read more]
Low levels of anti-AAV9 and not age-dependent in adults with SMA
German clinicians determined the level of anti-AAV9 antibodies in 69 adults with SMA type II and III. Using a threshold greater than 1/50 as an exclusion criterion for gene therapy trials in Zolgensma, they found: a low prevalence of this criterion in adults: only three patients (4.3%) have a rate greater than 1/50 ; a … [Read more]
A new lead in the treatment of MELAS syndrome
The MELAS syndrome is a mitochondrial disease with a partly neuromuscular expression and is related, in the vast majority of cases, to a point mutation (m.3243A>G) of the mitochondrial DNA. French specialists report laboratory work on a cellular model of the disease (cybrid cells with different levels of heteroplasmy of this mutant). A multi-omics approach … [Read more]
A broad natural history study in myotonic dystrophies
The American Myotonic Dystrophy Registry is, after the French DM-scope database, one of the most important registries for Steinert disease (DM1) and myotonic dystrophy type 2 (DM2). An analysis of the data recorded during the first 17 years of operation of this register has been published. It includes 929 people with DM1, excluding infantile and … [Read more]
The first French series of patients with HINT1 neuropathy suggests a wider phenotypic and genotypic range
Neuropathies or neuromyotonias related to the HINT1 gene are of recent discovery (2012). A group of French experts gathered under the aegis of FILNEMUS, the French Rare Health Care for Neuromuscular Diseases Network, compiled clinical, genetic and electrophysiological data from seven patients with this autosomal recessive form of hereditary neuropathy: The initial presentation was suggestive of … [Read more]
A comparative study of two muscle biopsy techniques
Australian rheumatologists conducted a study to compare the feasibility and diagnostic performance of two techniques of muscle tissue sampling: one based on open biopsy, usually in a surgical setting, and the other consisting of needle puncture biopsy with guidance from muscle ultrasound (percutaneous technique). 38 adult patients (median age 64 years) were divided into two … [Read more]
Myotubular myopathy: valproic acid improves mouse models and leads to the identification of a specific epigenetic signature
Screening of 1280 molecules on zebrafish models of X-linked myotubular myopathy (XLMTM) showed that histone deacetylase (HDAC) inhibitors such as valproic acid or trichostatin A improved their swimming speed in a dose-dependent manner. Similarly, Mtm1-/y model mice had their survival prolonged and their motor capacity (suspension test) improved by these molecules, and this to a … [Read more]
DMB: EDG-5506 moves to phase II
Following the success of phase Ia and Ib, Edgewise Therapeutics announced in a July 2022 press release the launch of phase II to evaluate EDG-5506, an orally administered small molecule known to inhibit ATPase, which acts on fast fiber myosins, particularly affected in dystrophies. This evaluation will focus on safety, pharmacokinetics and effects on biomarkers and … [Read more]
FOP: a tendency for palovarotene to be effective
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid receptor agonist, versus placebo: 10 received placebo, 9 were treated with 5mg/d palovarotene for 15 days and then 2.5mg/d for a month, and 21 took 10mg/d palovarotene for 15 days … [Read more]
Myositis with interstitial lung disease: arguments to better consider lung transplantation
A retrospective analysis of 64 lung transplants performed by 19 expert centers in Europe (including France) in adults with myositis complicated by interstitial lung disease shows: a survival rate of 78% at one year after transplantation, 73% at 3 years and 70% at 5 years, i.e. figures similar to those of transplant recipients with another … [Read more]
