Blog Archives
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]
Report on the ‘1,000 researchers in schools’ operation
The 12th edition of the ‘1,000 researchers in schools’ operation has just come to an end. This year it ran from 4 November to 6 December. Nearly 1,500 events took place in 539 schools, introducing more than 60,000 pupils from 427 towns and cities to medical research. For the Institute, 36 experts took part in … [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]
ERN EURO-NMD webinar, 19 Dec. : Prof. Edoardo Malfatti (France)
Novel approaches and future developments in Neuromuscular Pathology Thursday 19 December 2024 – 16:00 – 17:00 Paris time Prof. Edoardo Malfatti (Paris-Est AP-HP, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
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]
Tribute to Michel Fardeau, pioneer of myology
Michel Fardeau passed away on 6 December at the age of 95. A medical researcher, he began his career as a Clinic Director at Paris Hospitals before working at the end of the 1960s at the National Institutes for Health (NIH) in Bethesda, in the United States, with his American counterpart King W Engel, with … [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]
