Spinal muscular atrophy
RSS feedThree-dimensional movement analysis measures the effectiveness of gene therapy in SMA
French clinicians report the development and results of a follow-up protocol for infants with SMA treated with gene therapy (onasemnogene abeparvovec or Zolgensma®): 23 children with SMA, including 19 with type I, 3 with type II and one presymptomatic, were included in this observational study, a device was used to calculate the inertial measurement units … [Read more]
A new natural history study in SMA
An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with SMAII and 162 with type III, from five countries (Belgium, Italy, Spain, the United States and the United Kingdom), change over time in the Hammersmith Modified Functional Scale (HFMSE) was … [Read more]
The UK experience of SMA gene therapy
The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA received this treatment between March 2021 and December 2022 at 16 centres across the UK, only 75 cases could be accurately documented, all had type 1 SMA and were treated … [Read more]
US recommendations for treating SMA
At the initiative of Cure-SMA, the American association of patients suffering from SMN1-related proximal spinal muscular atrophy (SMA), experts have analysed all aspects of innovative treatments and have drawn up recommendations for good practice: these recommendations are aimed at healthcare professionals, patients themselves (and their families) and insurers, the authors have drawn on a wealth … [Read more]
Neonatal screening of premature babies with SMA: the German experience
German clinicians report on their experience in the management of premature newborns diagnosed during newborn screening for SMN1-related proximal spinal muscular atrophy (SMA): there are as yet no international recommendations concerning this sub-population of children (born by definition before 38 weeks’ gestation), whether symptomatic or pre-symptomatic, the files of twelve premature babies screened between 2021 … [Read more]
Brain abnormalities in SMA?
Canadian researchers have compared the brain imaging of patients with spinal muscular atrophy (SMA) treated with risdiplam or nusinersen with those of people without the disease: 21 SMA patients with an average age of 17.5 years were included in the study, compared with a control group of 21 people who did not have SMA, 43% … [Read more]
Riboflavin 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]
