Spinal muscular atrophy
RSS feedA 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]
