In real-world settings, the one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is well tolerated and improves motor function outcomes in children with spinal muscular atrophy (SMA) — especially when given at ages younger than 8 months — a study in Israel found. Treatment with Zolgensma also was found to…
The loss of SMN protein in spinal muscular atrophy (SMA) may lead to disease features by causing a deficiency in another enzyme called ALDH1A2, which is essential for the maturation and expansion of motor neurons, the cells that are lost in SMA, according to a new study. The findings…
The amount of neurofilament proteins found in the cerebrospinal fluid, the liquid surrounding the brain and spinal cord, may help doctors better distinguish between adult-onset spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), a study found. The two conditions are marked by damage to motor neurons, the…
People with spinal muscular atrophy (SMA) being treated with Spinraza (nusinersen) received most of their injections at recommended times, according to real-world data from two large U.S. databases. In an electronic health records (EHR) database, adherence to treatment was similar in the maintenance and loading phase of Spinraza,…
Leah Zelaya, a 15-year-old with a rare form of spinal muscular atrophy (SMA), was chosen by the Muscular Dystrophy Association (MDA) to be its 2023 MDA National Ambassador. As national ambassador, the Brooklyn, New York, teenager represents all those living with a neurological disease in the U.S. She and…
Raft Digital Therapeutics has launched a demo version of Cloud Bazaar, a therapeutic video game that promotes physical activity and exercise in children with spinal muscular atrophy (SMA). Developed in partnership with Biogen Canada, the game aims to promote exercise adherence by turning physical activities into games and…
PerkinElmer‘s EONIS system has been approved in the U.S. to be used by certified laboratories to simultaneously test newborns for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The approval by the U.S. Food and Drug Administration (FDA) makes EONIS the first authorized test to be…
Spinraza (nusinersen) continues to show sustained efficacy in improving motor function in infants and toddlers with spinal muscular atrophy (SMA), according to newly released interim data from the SHINE study. The greatest benefits were among children who began being treated with Spinraza before they were 10 months old.
Newborn screening for spinal muscular atrophy (SMA) leads to better outcomes, with babies being diagnosed earlier and with prompt access to life-saving treatments, according to three-year data from the SMA screening program in the state of New York. Gene therapy was the main treatment strategy, and delays in getting…
Unlike in Australia, the U.S., and even several EU countries, there have been no programs for newborn screening for spinal muscular atrophy (SMA) in the United Kingdom — despite compelling evidence that an early diagnosis can improve patient outcomes. Now, Oxford University in the U.K. has launched a pilot study…