Blog Archives
Three-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]
ERN EURO-NMD webinar 5 Dec.: Prof. Werner Stenzel (Germany)
The role of muscle biopsy in inflammatory myopathies Thursday 5 December 2024 – 16:00 – 17:00 Paris time Prof. Werner Stenzel (Charité – Universitätsmedizin, Berlin, Germany) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
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]
Telethon 2024: 79,801,520 euros – the struggle goes on!
The thirty hours of the 2024 Telethon came to a close with a total of 79,801,520 euros raised. A fantastic result for an event held on an unusual date! The 2024 Telethon will be remembered as a major breakthrough in the fight against Duchenne muscular dystrophy, the emblematic disease that led to the creation of … [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]
CGG expansions in LRP12 implicated in hereditary peripheral neuropathies
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44 cases of CGG repeats in the LRP12 gene (and none in the GIPC and RILPL1 genes): the number of CGG repeats, less than 100 in 93.2% of cases, ranged from … [Read more]
Sertaline intake may suggest metabolic myopathy
Canadian specialists have reported two cases of secondary mitochondrial disruption following the use of sertaline (Zoloft®), a widely used anti-depressant: the two patients were aged 22 and 61 respectively, and were suspected of having myopathy linked to multiple acyl-coA dehydrogenase (MADD) deficiency, This was due to chronic fatigue and metabolic abnormalities (carnitine deficiency and disturbed … [Read more]
