Blog Archives
Good tolerability of Spinraza® 28 mg in SMA
The results of the first of three parts of the DEVOTE trial evaluating higher doses of Spinraza® (nusinersen) have been published: this first part involved six patients with SMN1-related proximal spinal muscular atrophy (SMA), aged between 6 and 12 years, whose symptoms appeared after the age of 6 months and who were followed up for … [Read more]
Protective effect of metformin on fibroblasts with GNE myopathy by restoring autophagic flux
A Chinese team has studied autophagic flow, which is involved in the formation of bordered vacuoles, in fibroblast cultures from people with GNE myopathy : autophagic flow is impaired; It is improved by metformin administration; the cellular protection of fibroblasts with GNE myopathy by metformin is independent of the AMPK-mTOR signalling pathway. Metformin protects … [Read more]
Towards standardised assessment of bulbar function in SMA
With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up recommendations for standardised assessment of these impairments: 21 speech therapists, 11 physiotherapists, five neurologists, four occupational therapists and one dentist first made an inventory of existing tools and then made … [Read more]
Review of the literature on drugs not recommended for CMT
Carried out in association with the American CMTA association, a systematic review of English-language articles shows that : vincristine and paclitaxel, two anti-cancer drugs, are likely to cause a rapid and severe worsening of CMT. They may be prescribed for the treatment of certain cancers, with careful monitoring of the development of neuropathic damage. The … [Read more]
A case of intracranial hypertension in an adult with SMA treated with nusinersen
German clinicians report the observation of a 21-year-old patient with type 2 spinal muscular atrophy who developed symptomatic intracranial hypertension after the twelfth intrathecal injection of nusinersen (Spinraza®): In addition to vomiting and headaches, the patient presented, very shortly after the injection, ocular signs (decreased visual acuity) confirmed by ophthalmological examination (bilateral papilledema), Magnetic resonance … [Read more]
A history of myology in Europe
In an article published in July 2023, an Italian researcher traces the origins and evolution of myology. This medical science of muscle and its diseases has developed over time, not only due to the advent of tools and technologies that improve our knowledge of muscle, but also due to the international collaborations that punctuate its … [Read more]
Primary mitochondrial myopathies: elamipretide is well tolerated but does not improve the 6-minute walk test or fatigue
The results of the international MMPOWER-3 trial evaluating the safety and efficacy of double-blind, placebo-controlled subcutaneous elamipretide in 218 adults with primary mitochondrial myopathy have been published: the majority of participants (74%) had a mitochondrial DNA mutation, the others a nuclear DNA mutation; elamipretide subcutaneous for 6 months was well tolerated; neither the gain in … [Read more]
Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome: two German experiments
Two German teams report on their successful CAR-T cell treatment of refractory anti-Jo1-associated antisynthetase syndrome in two patients. A first case reported by a team from Erlangen After an initial transient worsening (myalgia, CPK 13,600 U/L, fever for 3 days), the 41-year-old man’s condition quickly improved. Three months after the injection of CAR-T cells: lesions … [Read more]
Several drug candidates for giant axon neuropathy
An initial French study, supported by the AFM and using zebrafish models of giant axon neuropathy (GAN), has identified new drug candidates: Using pharmacological screening to identify small molecules that can restore both physiological and cellular deficits in the animal model. High-resolution behavioural, computational and imaging analyses enabled the researchers to select five drug candidates. … [Read more]
Promising initial results for CAR-T RNA cells in myasthenia gravis
The MG-001 trial is evaluating Descartes-08 CAR-T cells from Cartesian Therapeutics in the United States. These are autologous T lymphocytes genetically modified, not by DNA but by RNA, to target the B lymphocyte maturation antigen (BCMA) expressed on the surface of plasma cells. The first two parts of the trial, in 14 adults with a … [Read more]
