Myology research highlights
RSS feedDisease progression in BMD depends on the type of deletion
A retrospective natural history study of 943 patients with Becker myopathy (BMD) followed in 17 Italian neuromuscular centres provides information on the correlation between genetic abnormality, symptoms and disease course. Diagnosis was made at a median age of 7.5 years (4.0-14.0); the median age at last assessment was 26 years (16.6 – 41.9). The first … [Read more]
Viltolarsen slows the decline in respiratory function in walking and non-walking patients
A drug targeting exon 53 skipping of the DMD gene authorised in the United States and Japan, viltolarsen was evaluated for 48 weeks (80mg/kg/week) in 10 walking and 10 non-walking DMD patients aged 8 and over, in the Galactica53 trial. The results compared with those of untreated DMD patients from an external cohort showed that … [Read more]
Real-life data for gene therapy in SMA: the German-speaking area experience
A transnational registry containing real-life data from patients with SMN1-related proximal spinal muscular atrophy (SMA) has been set up in Germany, Austria and German-speaking Switzerland: data from patients who had received onasemnogene abeparvovec gene therapy (Zolgensma®) were analysed, 343 patients with an average age of 14 months at the time of Zolgensma® administration were included … [Read more]
CAR-T cells to treat severe forms of Lambert-Eaton syndrome
German researchers report the case of a patient with Lambert-Eaton syndrome (or LEMS, a presynaptic disorder of the neuromuscular junction very often of paraneoplastic origin) who benefited from an innovative therapy: the patient had an idiopathic form of LEMS, autologous anti-CD19 CAR-T cells were administered, resulting in selective depletion of B lymphocytes, positive results were … [Read more]
New data on life expectancy in DM2
Of the 125 Dutch patients with myotonic dystrophy type 2 (DM2) recorded in the Dutch neuromuscular database, 26 died between 2000 and 2023 : the median age of these deaths was 70.9 years, compared with a life expectancy for the general population of 78.1 years; the main causes of death were cardiac (31%) and respiratory … [Read more]
An algorithm to assist diagnostic for seronegative autoimmune myasthenia gravis
At the 275th workshop of the European Neuromuscular Centre (ENMC), held in February 2024 in the Netherlands, experts and patient representatives met to review the diagnosis and management of seronegative autoimmune myasthenia gravis in the light of the latest advances. They concluded that : seronegative autoimmune myasthenia (undetectable autoantibodies) affects 10 to 15% of patients … [Read more]
From diagnosis to treatment, antisynthetase syndrome is attracting international attention
In France, the National Data Bank for Rare Diseases lists 1,156 patients followed up in Centres of Reference or Competence for an anti-synthetase syndrome (SAS), an entity associated with overlapping myositis, which until now has lacked a consensual definition. The members of the international project Classification Criteria for Anti-synthetase Syndrome (Class) : have identified clinical … [Read more]
Post-hoc news on efgartigimod in anti-RACh myasthenia gravis
The phase III placebo-controlled Adapt trial and its open-label extension Adapt+ evaluated the efficacy of efgartigimod, an anti-FcRN, in generalised autoimmune myasthenia gravis. They ended in 2020 and 2022 respectively. Their results were the subject of a post hoc analysis, which showed that, in participants with anti-RACh : a significantly higher percentage of patients treated … [Read more]
Methylation studies to help with the molecular diagnosis of FSHD
The Italian consortium dedicated to facioscapulohumeral muscular dystrophy (FSHD) reports on its experience in integrating methylation studies into the routine diagnosis of this myopathy with an excessively complex pathophysiology: 218 patients with or suspected of having FSHD were included in the study, in addition to measuring the number of D4Z4 repeats and 4qA/B haplotyping, methylation … [Read more]
The case of premature twins with SMA who received early treatment
American clinicians report their experience of gene therapy treatment of two twins with proximal spinal muscular atrophy (SMA) who were born prematurely. The twins were born at 30 weeks and 2 days gestation due to a decelerated heart rate in one of the girls; they weighed 1560 and 1590 grams. Genetic analysis revealed no copy … [Read more]
