A man with type 3 spinal muscular atrophy (SMA) and no history of diabetes developed diabetic ketoacidosis, a severe diabetes complication, which researchers said may be linked to metabolic changes. SMA can cause major loss of muscle, which plays a key role in processing sugars and fats. Muscle loss…
An infant with spinal muscular atrophy (SMA) type 1 and neutropenia was successfully treated with with Zolgensma (onasemnogene abeparvovec-xioi), according to a case report. Neutropenia, which refers to low levels of immune cells called neutrophils, increases the risk for infections. However, the child “tolerated the treatment well and,…
Most parents and potential parents in the U.K. support screening newborns for spinal muscular atrophy (SMA) as part of the National Health Service (NHS) Newborn Screening Programme, according to a survey developed and funded by Novartis. “We believe that this government has an opportunity to make newborn screening…
Molecular markers in the liquid that surrounds the brain and spinal cord, called the cerebrospinal fluid (CSF), may help predict how well people with type 2 or 3 spinal muscular atrophy (SMA) respond to Spinraza (nusinersen), a study reports. The study’s researchers found that certain CSF molecules involved…
A group of questionnaires called PROfuture can meaningfully measure a variety of symptoms of spinal muscular atrophy (SMA) that impact patients, a study reported. “The PROfuture questionnaires, developed by patients for patients in the current era of new treatments for SMA, can help to better characterize the impact of…
A real-world study of Spinraza (nusinersen) use in Switzerland among individuals with spinal muscular atrophy (SMA) found that, while patients tended to experience motor function benefits mostly in their first year of treatment, many continued to see gains or disease stabilization for four years. Spinraza treatment had the…
Most adults and adolescents with spinal muscular atrophy (SMA) experience intermittent pain, with more than half having pain episodes at least once a week, a study reports. This pain was generally mild to moderate and affected the hips or spine. People with more depressive symptoms tended to have more…
The European Commission (EC) has approved a tablet formulation of spinal muscular atrophy (SMA) treatment Evrysdi (risdiplam). “The new Evrysdi tablet with its flexible administration represents progress toward more versatile SMA disease management,” Levi Garraway, MD, PhD, chief medical officer and head of global product development at Roche,…
Get regular updates to your inbox.
