Author Archives: Margarida Maia PhD

In an African American toddler, neuromuscular symptoms of a severe form of nutritional rickets — a condition characterized by weak or soft bones due to dietary deficiencies — were initially mistaken as spinal muscular atrophy (SMA) type 3, according to a new case study. Researchers say the overlapping…

The European Commission (EC) has extended its approval of Evrysdi (risdiplam) to treat babies with spinal muscular atrophy (SMA) who are younger than 2 months old, making the therapy now available to treat SMA patients across all age ranges in Europe. Evrysdi was first approved in the European Union…

Spinraza (nusinersen) carries relatively few side effects and nearly halves the odds of children and adolescents with spinal muscular atrophy (SMA) having serious or fatal side effects compared with a placebo, according to a meta-analysis. The study, “Adverse events in the treatment of spinal muscular atrophy…

GenQA is asking people with spinal muscular atrophy (SMA) and their families in the U.K. to donate a small blood sample that will help the company determine if newborn screening tests are accurate and reliable. The U.K.-based company, operated by the Oxford University NHS Foundation Trust, provides…

A young boy and three of his relatives were found to carry a new mutation that was the likely cause of their spinal muscular atrophy with lower extremity predominance, known as SMA-LED, according to a report from China. Researchers mapped the mutation to the DYNC1H1 gene, which has…

The U.S. Food and Drug Administration (FDA) has given fast track designation to Biohaven Pharmaceuticals‘ experimental medicine taldefgrobep alfa for the treatment of spinal muscular atrophy (SMA). The designation is granted to therapies that show potential in addressing serious conditions for which available treatments fall short. It…

Young children with spinal muscular atrophy (SMA) feel more fearful and sad, and may have a harder time recovering from distress than children who are healthy or have other conditions, a small study in India has found. These patients also seem to have more difficulty expressing their feelings…

Researchers in Japan are conducting a study to better understand the natural history of spinal muscular atrophy (SMA) and how well disease-modifying therapies work in the real-world setting. The Biogen Japan-sponsored study will draw on data from the Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA),…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was safe and effective in a baby girl with spinal muscular atrophy (SMA) type 1 who was previously on Evrysdi (risdiplam) for about three months, a case study reports. This likely represents the first report of safety and efficacy outcomes…

A combination of in vitro fertilization and preimplantation genetic testing helped a couple in Indonesia — both carriers of mutations causing spinal muscular atrophy (SMA) — become parents of a healthy newborn, a case study reported. Their first daughter was diagnosed with SMA at 7 months, and she died of disease-related…