Myology research highlights
RSS feedA 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]
The real-world effects of medications contraindicated in Myasthenia Gravis
French clinicians have examined the links between autoimmune myasthenia gravis and medications that are traditionally contraindicated (either formally or relatively) for this condition: The National Health Data System (SNDS) was used to conduct a study tracking potential complications associated with these medications over the 2013–2020 period; data from 14,459 people with autoimmune myasthenia gravis were … [Read more]
Improved efficacy of ERT in pediatric forms of Pompe disease due to newborn screening
A growing number of countries, including the United States, have implemented newborn screening for Pompe disease. American clinicians review the cases of children screened and treated with enzyme replacement therapy (ERT) as soon as possible (within 4 weeks): the records of 17 patients diagnosed at birth (infantile form of Pompe disease) who received ERT and … [Read more]
Caution is advised with certain herbal supplements in patients with autoimmune diseases
American doctors have examined the potential risks of over-the-counter herbal products due to their impact on the immune systems of patients with autoimmune conditions such as dermatomyositis: their conclusions are based on a literature review that identified fifteen substances proven (in humans, animals, or cell models) to have an immunostimulatory effect; these non-pharmaceutical products are … [Read more]
The use of autologous CD19 CAR-T cells in refractory autoimmune diseases
A European consortium of researchers reviews the therapeutic use of genetically modified autologous T cells (CAR-T cells): this autologous cell therapy was administered to patients with autoimmune diseases resistant to standard treatments (lupus, scleroderma, and myositis) as part of a Phase I/IIa trial called CASTLE, the product used, zorpo-cel, is a CD19-type CAR-T analog, 24 … [Read more]
