2025年1月17日 · US, EU regulators to review higher-dose Spinraza for use in SMA. Regulators in the U.S. and the European Union have agreed to review Biogen’s applications seeking approval of a higher dose of Spinraza (nusinersen) for all types of spinal muscular atrophy (SMA) in individuals of all ages — a regimen the therapy’s developer says may provide more effective …

The nutritional management of patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) is complex and is achieved optimally with an individualized approach from a multidisciplinary care team. 1,2 Patients with SMA need nutritional monitoring at least annually with assessment of caloric intake and standard anthropomorphic measurements. 3 In …

2024年12月4日 · The case study, “ A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy,” was published in the American Journal of Medical Genetics. SMA is marked by the degeneration of motor neurons, the nerve cells that control muscle movement, which causes symptoms such as muscle weakness and wasting (atrophy).. …

2025年1月24日 · SMA type 4 life expectancy. SMA type 4 is the mildest form of the disease and one of the rarest, affecting fewer than 1% of everyone living with SMA. Type 4 symptoms often begin in adulthood, usually after the age of 35. Life expectancy with SMA type 4 is normal.

2024年11月29日 · Thoracic neurons. SMA is caused by mutations in the SMN1 gene that result in low or no production of the survival motor neuron protein, or SMN. The loss of this protein particularly affects motor neurons, the nerve cells that control voluntary movements. These are progressively lost, leading to muscle weakness and wasting and other disease symptoms.. …

2024年11月8日 · Zolgensma delivers working copies of SMN1 to body’s cells. Zolgensma (onasemnogene abeparvovec-xioi) is a one-time gene therapy that delivers working copies of SMN1 to the body’s cells so that functional SMN protein can be produced.. In the current study, researchers from Germany, Austria, and Switzerland examined real-world data from 343 SMA …

2022年6月24日 · Nolan Shofner, who has spinal muscular atrophy (SMA) type 1, replies in a southern accent with a computerized voice: “My bones are bouncing all over the place.” With 1.1 million views as of mid-June, it’s one of the brothers’ most popular TikTok videos.

2024年10月9日 · The SAPPHIRE study enrolled 188 young adults and children with SMA type 2 or 3, including 156 patients, ages 2-12, in the main group, and 32 patients, ages 13-21, in an exploratory group. In addition to their standard of care, Spinraza or Evrysdi, patients were randomly assigned to receive apitegromab or a placebo via intravenous infusion every four …

Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease associated with typically proximal muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. 1 With the widespread use of genetic techniques to diagnose SMA, clinicians now rarely use pathology specimens to confirm SMA diagnosis. 2,3 A current diagnostic algorithm proposed …

2024年1月5日 · A Phase 1 study (NCT04392830) that enrolled 72 healthy adult volunteers found AJ201 was generally well tolerated.. AJ201 has received orphan drug status from the U.S. Food and Drug Administration (FDA) for SBMA, Huntington’s disease, and spinocerebellar ataxia.The designation is granted to treatments that target conditions that impact fewer than 200,000 …