Myology research highlights

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New long-term results of Zolgensma

In a press release dated 20 March 2023, Novartis presents new results for Zolgensma (onasemnogene abeparvovec) from two 15-year follow-up studies: Study LT 001 is conducted in 10 participants of the START trial who had been treated post-symptomatically with intravenous therapy before the age of 6 months: all are alive, able to feed orally and … [Read more]

The need for early recognition and treatment of primary carnitine deficiency

Clinicians and biologists from Bordeaux report the observation of a four and a half month old child who presented a severe metabolic decompensation. The clinical picture was characterized by severe hypotonia, digestive disorders (diarrhoea, vomiting), and a first cardiac arrest in a context of profound hypoglycaemia. The metabolic assessment quickly revealed a primary carnitine deficiency … [Read more]

Artificial intelligence for the evaluation of movements in DMD

Clinical trials using force or movement measurements are highly dependent on patient motivation. To overcome this bias, British researchers developed a biomedical device with whole-body motion sensors to measure kinetic activity in real life: 21 patients with Duchenne muscular dystrophy (DMD) participated in the study, 18 were still ambulant versus three non-ambulant, the data obtained … [Read more]

New drug causes immune-mediated necrotizing myopathy

Immune-mediated necrotizing myopathy is of recent description and linked, in most cases, to exposure to cholesterol-lowering drugs such as statins. American clinicians report a novel case in which leflunomide was involved. The case presented is that of a 66-year-old female patient followed in rheumatology for rheumatoid arthritis. The patient presented an acute episode of muscle … [Read more]

CTLA4-positive thymus cells may protect against the risk of developing autoimmune myasthenia

In a search for the determinants of autoimmune myasthenia, Catalan researchers have analysed the immunological signatures of several cases of thymoma: the study included 41 thymomas operated on between 2010 and 2020, 56% of the patients included had active autoimmune myasthenia, the number of CTLA4 positive thymic cells was significantly higher in the absence of … [Read more]

Active and early treatment of autoimmune myasthenia ensures a better long-term outcome

Japanese researchers retrospectively analysed the treatment regimens of 1066 patients diagnosed with generalised myasthenia gravis. Early cycles of fast-acting treatment (EFT) included plasmapheresis (EP), intravenous immunoglobulin (IVIG) injections and bolus methylprednisolone. Their efficacy was judged on their ability to induce complete remission or treatment with corticosteroids of less than 5 mg daily. Comparing data from … [Read more]

Results of a survey conducted by FSHD Europe

The results of a European survey on the expectations of clinical trials of 1147 people with facioscapulohumeral myopathy living in 26 European countries including France showed that : respondents to the survey are mainly people with FSHD1 (68%) against 7% with FSHD2, the others not having a genetic diagnosis; they are on average 50 years … [Read more]

An exploration of the role of second-line treatments in resistant forms of juvenile dermatomyositis

Conventional treatments for juvenile dermatomyositis (corticoids, methotrexate, immunoglobulins) are sometimes ineffective and/or poorly tolerated. More recent molecules can then be proposed. A survey of 121 health professionals, mostly paediatricians and rheumatologists practising in the United States, revealed the following observations half of the prescribers waited an average of four months before considering a second-line treatment, … [Read more]

A Canadian observation of congenital myasthenic syndrome with mutations in the SLC5A7 gene

To date, 34 genes are involved in congenital myasthenic syndromes (CMS), including SLC5A7. The latter encodes CHT1, a protein responsible at the presynaptic level for reuptake of acetylcholine molecules. Canadian researchers report the observation of an 11 year old patient with : the clinical picture was one of hypotonia and global developmental delay after the … [Read more]

Long-term outcome of twelve women with early-onset dystrophinopathy in the Netherlands

The first signs of dystrophinopathy (motor and/or language delay, feeding difficulties, exercise intolerance, fatigue and myalgias…) appeared in these women from birth to the age of 12. The diagnosis was made within 6 months to 23 years. The medical assessment of eleven of them (the twelfth, non-ambulatory, having died of terminal heart failure at the … [Read more]