Myology research highlights
RSS feedFrom 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]
Stamina analyses the treatment of myasthenia in ‘real life’ in France
Based on data from the French National Health Data System (SNDS), the Stamina study reviewed the management of two groups of adults with autoimmune myasthenia gravis: the ‘prevalent’ population, of 22,079 patients diagnosed before 31 December 2019, the ‘incident’ population, comprising 2,661 patients diagnosed in 2012 or 2013. A study of their follow-up shows that … [Read more]
Three-dimensional movement analysis measures the effectiveness of gene therapy in SMA
French clinicians report the development and results of a follow-up protocol for infants with SMA treated with gene therapy (onasemnogene abeparvovec or Zolgensma®): 23 children with SMA, including 19 with type I, 3 with type II and one presymptomatic, were included in this observational study, a device was used to calculate the inertial measurement units … [Read more]
A new natural history study in SMA
An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with SMAII and 162 with type III, from five countries (Belgium, Italy, Spain, the United States and the United Kingdom), change over time in the Hammersmith Modified Functional Scale (HFMSE) was … [Read more]
The UK experience of SMA gene therapy
The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA received this treatment between March 2021 and December 2022 at 16 centres across the UK, only 75 cases could be accurately documented, all had type 1 SMA and were treated … [Read more]
US recommendations for treating SMA
At the initiative of Cure-SMA, the American association of patients suffering from SMN1-related proximal spinal muscular atrophy (SMA), experts have analysed all aspects of innovative treatments and have drawn up recommendations for good practice: these recommendations are aimed at healthcare professionals, patients themselves (and their families) and insurers, the authors have drawn on a wealth … [Read more]
Neonatal screening of premature babies with SMA: the German experience
German clinicians report on their experience in the management of premature newborns diagnosed during newborn screening for SMN1-related proximal spinal muscular atrophy (SMA): there are as yet no international recommendations concerning this sub-population of children (born by definition before 38 weeks’ gestation), whether symptomatic or pre-symptomatic, the files of twelve premature babies screened between 2021 … [Read more]
