Spinal muscular atrophy
RSS feedRiboflavin transporter deficiency: the importance of treating early, even if it doesn’t solve everything
A retrospective study describes a population of 11 children with riboflavin transporter deficiency (RTD) type 2, all carriers of mutations in the SLC52A2 gene, followed up between 2012 and 2022: the most frequent first symptom was ataxia (n=9), followed by hearing loss (n=4), nystagmus (n=2) and upper limb weakness (n=1); the mean age of onset … [Read more]
Thrombotic microangiopathy: a formidable complication of gene therapy
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal muscular atrophy (SMA): thrombotic microangiopathy (TMA) is an immune runaway phenomenon linked to complement activation, with potentially dramatic consequences, Based on published data and their real-life experience with SMA, the … [Read more]
Myostatin in SMA: few variations after treatment with nusinersen
Researchers have studied the levels of endogenous circulating myostatin in patients with SMA, at a time when several anti-myostatin drugs are being tested: myostatin and follistatin were measured before and after treatment with an innovative compound, 25 patients, including 13 with type 1 SMA, took part in this retrospective study, before treatment, myostatin levels correlated … [Read more]
A tool for assessing swallowing disorders in SMA
Italian clinicians report their experience in the endoscopic exploration of swallowing disorders in patients with type 1 proximal spinal muscular atrophy (SMA) who have not been gastrostomised and are receiving innovative therapy: 10 children underwent oropharyngeal fibroscopy and six of them underwent additional radiological exploration (video-fluoroscopy), functional scales were used to measure the risk of … [Read more]
Mixed results of gene therapy in two older children with SMA type 1
British clinicians report their real-life experience of two children who received onasemnogene replacement gene therapy abeparvovec (OA) at a later age than usual: these two children with type 1 spinal muscular atrophy had received nusinersen for several years and were aged 7 and weighed 20 kg at the time of the OA injection, in addition … [Read more]
Spinal cord organoids developed for SMA
In recent years, the development of organoids, small 3D structures that resemble the whole organ, has enabled us to understand how they develop and function. German researchers have developed spinal cord organoids in SMA, using patient-derived IPS cell lines. These spinal cord organoids show defects in early neurological development that could be responsible for the … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Gene therapy and SMA: an update of European recommendations
A consortium of European experts has reviewed, four years apart, the use of AAV-based gene therapy in SMA: real-life data and feedback from neonatal diagnosis of SMA in many countries were taken into account in this update, 19 specialists from 17 European countries, including France, took part in the working group twelve proposals were discussed … [Read more]
Cognitive problems are common in children with SMA, even if they are treated early on
German clinicians looked at the frequency of cognitive impairment in a cohort of children with SMN1-related spinal muscular atrophy (SMA) type 1 who had received early treatment with one of the three innovative therapies available on the market: 20 children were included in the study, 19 of whom were symptomatic (up to 3 copies of … [Read more]
SMA: chronic pain is common, particularly in adolescence
Analysis of data from the Swiss neuromuscular disease register relating to 141 patients with SMN1-related proximal spinal muscular atrophy (SMA) shows that : 28 had type I SMA, 59 type II, 51 type III and three of undetermined type because they were treated in the asymptomatic phase; 48% of the 67 adults, 62% of the … [Read more]
