Treatment with AJ201 was well tolerated and showed signs of improving physical activity in a clinical trial involving people with spinal and bulbar muscular atrophy (SBMA), according to new data announced by developer Annji Pharmaceutical. “I am greatly encouraged by the positive clinical outcomes observed after a relatively…
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Injecting medicines into the amniotic fluid — the liquid that surrounds a developing fetus during pregnancy — may be a viable strategy for treating spinal muscular atrophy (SMA) before birth, according to a new study done in animal models. “These data demonstrated that [injecting therapies into amniotic fluid] holds…
Gene therapy GC101 was found to rescue disease manifestations in a mouse model of spinal muscular atrophy (SMA) type 3 and to be safe in non-human primates, supporting its move into clinical testing. Genecradle Therapeutics is sponsoring ongoing Phase 1/2 clinical trials in SMA type 1 (NCT05824169),…
Blood creatinine-to-cystatin-c ratio, an emerging indicator of muscle mass and strength, may be a promising biomarker of therapeutic response in adults with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly associated with gains in motor function, including improved motor skills, hand and…
Training with a wearable robotic device called HAL, for hybrid assistive limb, improved walking ability for people with spinal muscular atrophy (SMA) who were also receiving treatment with Spinraza (nusinersen), according to a study in Japan. “[These] results may provide sufficient data to inform clinical decision-making about the…
Richard Finkel, MD, a pediatric neurologist at St. Jude Children’s Research Hospital, was included on a list of 100 individuals having a positive influence on global health in 2025, in recognition of his work treating childhood neuromuscular disorders such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Finkel…
Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy…
SMA Europe will host its 1st International Clinical Care Symposium on SMA and focus on the biological causes of spinal muscular atrophy (SMA) and how to prevent and manage the symptoms that may lead to life-threatening emergencies. Titled, “Medical Emergencies in SMA: pathophysiology, prevention, and response,” the…
A study found that people with spinal muscular atrophy (SMA) have metabolic alterations due to impairments in how their bodies use fatty acids for energy. The results suggested a carbohydrate-rich diet may help normalize metabolism in SMA patients. The study, “Alterations of Fat and Ketone Body Metabolism…
It can be difficult for genetic counselors in the U.S. and Canada to explain indeterminate results of prenatal screening for spinal muscular atrophy (SMA), as patients are often confused or distressed before appointments, and misunderstandings are common among both patients and doctors. Results can be indeterminate in the case…
