Spinal muscular atrophy
RSS feedNusinersen in Neuromuscular Disease Reference Centers
Clinicians from the French network of neuromuscular disease specialists followed a cohort of 37 children treated with nusinersen (Spinraza) between the ages of 2 months and 3 years for three years. The motor functions of these patients, now aged between 3 and 6, improved. Motor development was greater in children with three copies of the … [Read more]
Atypical mitochondrial profile in Jokela spinal muscular atrophy
Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland: the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects, all underwent a … [Read more]
A meta-analysis of side effects associated with innovative treatments for SMA
Chinese researchers have gone through the data published by the American FDA with great care concerning the clinical and biological safety of three drugs commonly used in the treatment of proximal spinal muscular atrophy linked to the SMN1 gene (SMA): these researchers used a Venn-type comparative method based on data from the FDA’s pharmacovigilance system, … [Read more]
A stem cell model to assess the passage of the blood-brain barrier
British researchers have developed induced pluripotent stem cell (iPSC) lines to test the permeability of the blood-brain barrier to two therapeutic agents used in several neuromuscular diseases, including spinal muscular atrophy (SMA): three iPSC lines obtained were differentiated into endothelial cells involved in brain microvascularisation, a permeability index (endothelial electrical resistance or TEER) was defined, … [Read more]
No correlation between fatigue and severity in SMA?
The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among 243 adults affected by the disease have been published: responders were asked to use three of the following five fatigue measurement instruments: the Modified Fatigue Impact Scale (MFIS), the Multidimensional … [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]
SAPPHIRE trial starts at I-Motion
The SAPPHIRE trial is an international, randomised, double-blind, placebo-controlled phase III trial that will evaluate the effects of a dual treatment : apitegromab (an anti-myostatin developed by Scholar Rock) injected intravenously every 4 weeks for one year, in addition to treatment with nusinersen or risdiplam, in non-walking patients with SMA type II or III, 156 … [Read more]
