Scholar Rock remains on track to report topline results later this year from its ongoing Phase 3 clinical trial of apitegromab in children and young adults with spinal muscular atrophy (SMA) types 2 or 3. Apitegromab is an antibody that targets myostatin, a protein involved in suppressing muscle…
Inhibiting an abnormally hyperactive protein called cyclin-dependent kinase 5 (Cdk5) significantly lessens the dysfunction and death of motor neurons, the cells lost in spinal muscular atrophy (SMA), a new study reports. These findings support Cdk5 as a potential therapeutic target for the progressive disease, researchers say. The study, “…
A drop in the levels of four proteins in the cerebrospinal fluid (CSF) may be a marker of response to treatment with Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), a real-world data study suggests. The predictive value of the four-protein panel — which includes neurofilament light chain,…
The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) safely and effectively treats infants with spinal muscular atrophy (SMA), especially when given within the first two months of life, according to the findings of a real-world, small study in Italy. Zolgensma “is an excellent therapeutic option for SMA patients” the…
Most of the infants and children with spinal muscular atrophy (SMA) in the RESPOND clinical trial who responded poorly to the gene therapy Zolgensma showed gains in motor function with Biogen’s Spinraza (nusinersen), according to early results. Prior preclinical studies have suggested Zolgensma may target only…
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…
