Myology research highlights
RSS feedRapamycin: an adjunctive treatment for post-gene therapy hepatotoxicity with AAV?
American specialists in gene therapy using adeno-associated viruses (AAV) have investigated the serious cases of liver toxicity that occurred during gene therapy with microdystrophin (delandistrogene moxeparvovec, Elevidys®) in patients with Duchenne muscular dystrophy: four patients treated with this product who developed serious liver damage on average one month after injection were given higher doses of … [Read more]
The effect of nusinersen on taurine metabolism in SMA
Italian researchers have been investigating taurine, a naturally occurring amino acid whose metabolism appears to be affected in proximal spinal muscular atrophy (SMA): they first demonstrated that taurine levels were significantly reduced in the central nervous system of a mouse model of SMA (SMND7), particularly in the brainstem; taurine levels subsequently measured in the cerebrospinal … [Read more]
Is there an increased risk of cancer in autoimmune myasthenia gravis?
Israeli researchers have investigated the risk of developing cancers other than thymoma in patients with autoimmune myasthenia gravis: data on 1,558 adults with myasthenia gravis were extracted from the Israeli Clalit health database, then compiled and compared with those of a control group; this group of patients had a higher rate of cancers (leukaemia or … [Read more]
An in-depth and informative analysis of two false-positive cases in neonatal screening for SMA
German and Australian researchers report the case of two newborns who tested positive at birth for SMA: during the initial routine analysis, a homozygous deletion of the SMN1 gene was identified; as the confirmatory test using complementary techniques (ddPCR, MLPA) proved negative, the hypothesis of an unusual genotype was then put forward, two distinct rearrangements … [Read more]
A questionnaire to assess the impact of non-dystrophic myotonias
A French consortium of experts, coordinated by the Nice Neuromuscular Reference Centre, has developed a questionnaire called Active-NMD: this new tool is designed for patients to measure the impact of the disease on daily life, particularly in terms of quality of life, it was developed by a panel of 11 experts in the field, using … [Read more]
Rare forms of transition between dermatomyositis and ankylosing spondylitis
American clinicians investigated a number of cases of juvenile dermatomyositis (JDM) in which symptoms and signs consistent with one of the three forms (axial, peripheral or psoriatic) of ankylosing spondylitis (AS) subsequently developed: seven patients met the criteria (clinical and laboratory) for both conditions, an average of seven years elapsed between the diagnosis of JDM … [Read more]
Certain autoimmune diseases, including myositis, are caused by the internalisation of autoantibodies
Researchers from Strasbourg, as part of an international consortium, report the results of large-scale transcriptomic analyses conducted in the context of autoimmune muscle diseases: using in situ RNA sequencing, it was possible to identify transcriptomic signatures specific to certain autoantibodies, these were studied in particular in muscle biopsies from dermatomyositis (Mi2-positive) and scleroderma-overlapping myositis (PM/Scl-positive), … [Read more]
Clinical stability in real-world settings following a switch to new enzyme therapies in Pompe disease
Although phase III trials (the COMET and PROPEL trials) have demonstrated the efficacy of next-generation enzyme therapies – avalglucosidase alfa (Nexviadyme®) and cipaglucosidase alfa (Pombiliti®) – in Pompe disease, real-world data remain limited. A prospective study conducted at five centres in Germany, where both treatments are available, analysed data from 39 adults with late-onset Pompe … [Read more]
An update on the emerging concept of myotubulinopathy
Pathogenic variants in the TUBA4A gene underlie several phenotypes, some of which manifest as muscular symptoms. An international consortium of researchers has compiled the full set of clinical and genetic data from 31 patients with a mutation in this gene, drawn from 19 unrelated families: 17 of these families had a purely muscular phenotype, whilst … [Read more]
Two useful biomarkers for a muscle-manifesting mitochondrial disease
Italian and Norwegian researchers report on their work concerning MELAS syndrome (an acronym for Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes), a mitochondrial cytopathy with neuromuscular manifestations: although the presence of the m.3243A>G variant indicates the existence of the syndrome, the clinical phenotype can vary, ranging from the classic form to less severe phenotypes; neurofilament … [Read more]
