Carl Rooney, a father of two from the English town of St. Ives, aims to run 2,017 miles to raise money for SMA Support UK, the charity that supported his brother, who has spinal muscular atrophy (SMA). The 39-year-old chose this marathon challenge hoping to give something back to the community,…
The patent application for gene therapy candidate INT41, developed by Vybion for the treatment of Huntington’s disease, spinal muscular atrophy (SMA), and other neurodegenerative diseases, was granted Track One status from the U.S. Patent and Trademark Office (USPTO). The patent application covers the treatment’s composition and methods of use.
Lowering levels of a newly identified protein, in combination with a splice-modifying therapy, improved symptoms and survival in animal models of spinal muscular atrophy (SMA), according to a recent study. The finding suggests that targeting the factor — called neuronal calcium sensor neurocalcin delta (NCALD) — could be beneficial for SMA patients,…
Vivonoetics is partnering with Great Lakes NeuroTechnologies to provide advanced respiratory assessment to the Roche FIREFISH Phase 2 clinical trial in infants with type 1 spinal muscular atrophy type 1 (SMA-1). Vivonoetics is the developer of VivoSense data analysis and software and wearable monitoring devices that have supported research…
RTI International has developed a groundbreaking program of free genetic-disease testing for newborns, with the initial screenings being for the spinal muscular atrophy (SMA) and fragile X syndrome. Although most American newborns are tested for a number of genetic diseases, screenings are not done for others because they are too…
Researchers conducted a questionnaire-based study to learn more about pregnancy and delivery in women with spinal muscular atrophy (SMA), knowing this information will be useful to doctors who want to provide the best counseling to their SMA patients considering motherhood. The study, “Pregnancy And Delivery In Women With Spinal…
The EU Joint Programme —Neurodegenerative Disease Research (JPND) is calling for proposals for pathway analysis of multinational research projects, focusing on neurodegenerative diseases such as spinal muscular atrophy (SMA). According to a JPND news piece, neurodegenerative disorders such as Alzheimer’s disease and other dementias and Parkinson’s disease are…
In infants with spinal muscular atrophy (SMA), treatment with Spinraza (nusinersen), the first FDA-approved drug for SMA, reduces the risk of death or permanent ventilation, according to new results from the Phase 3 ENDEAR study (NCT02193074). Biogen presented the data at the British Paediatric Neurology Association (BPNA)…
Patients with spinal muscular atrophy (SMA) are at risk of developing the metabolic disorder ketoacidosis, a less recognized complication that is easy to treat, according to a case study. Researchers behind the work, “Stress-Induced Ketoacidosis in Spinal Muscular Atrophy: An Under-Recognized Complication,” noted that testing for the condition, which…
Researchers may have discovered a new treatment for spinal muscular atrophy (SMA). Identifying a molecule that prevents the SMN2 gene from being read by protein-making machinery, they then showed that getting rid of it increased SMN protein levels. Importantly, the approach also enhanced the effectiveness of a splice-modification drug that works much like the…
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