An 8-month-old girl with a clinical and genetic diagnosis of spinal muscular atrophy (SMA) type 1 saw her condition improve after starting treatment with Evrysdi (risdiplam), according to a recent case reported in China. Specifically, the treatment improved the girl’s muscle tone and head control as well…
A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…
Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with standard…
Among women of reproductive age in a southern region of China, one in every 59 tested in a screening program was found to be a carrier of mutations in the SMN1 gene — the main cause of spinal muscular atrophy (SMA) — a new study reports. In the southern…
The case of a 4.5-year-old girl with spinal muscular atrophy (SMA) type 2 who had acute pain and swelling in her legs after physiotherapy due to multiple fractures was recently described in India. The child had poor bone health, but the fractures were considered linked to…
Voyager Therapeutics is collaborating with Novartis to discover and develop next-generation gene therapies for conditions like spinal muscular atrophy (SMA). Under terms of the agreement, Novartis will obtain a target-exclusive license to Voyager’s TRACER capsids for SMA and Huntington’s disease, and it will…
Researchers in the U.S. report using a gene-editing method to alter the SMN2 gene sequence, leading to normal levels of the survival motor neuron (SMN) — the protein that is lacking in spinal muscular atrophy — in early studies. These results were obtained in a cell line derived from…
Revvity has launched its EONIS Q system for faster and simplified newborn molecular screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID), the company announced. According to Revvity, this easy-to-use platform reduces the complexity and costs for laboratories, so they can expand newborn screening capabilities.
NIDO-361, Nido Biosciences’ experimental oral treatment for spinal and bulbar muscular atrophy (SBMA), was seen to be generally safe and well tolerated in healthy adults who participated in an initial clinical trial. Results of the Phase 1 study (ACTRN12622000964718) were presented during the 2023 International Kennedy’s…
Children with spinal muscular atrophy (SMA) generally have poor bone health, including low bone mineral density and reduced bone formation and remodeling, a study indicates. The effect on bone health is more pronounced in children with worse motor function, but as treatment with Spinraza (nusinersen) improved motor function…
