Author Archives: Lindsey Shapiro PhD

Treatment with an investigational high-dose regimen of Spinraza (nusinersen) was well tolerated and significantly improved motor function in infants with spinal muscular atrophy (SMA) relative to untreated patients, according to top-line data from the pivotal portion of a Phase 2/3 clinical trial. Results from the DEVOTE…

Children with spinal muscular atrophy (SMA) exhibit widespread metabolic disruption — changes that affect the body’s metabolism — relative to children without SMA, according to a new Chinese study. Metabolic analyses of the cerebrospinal fluid (CSF), the fluid surrounding the brain and spinal cord, indicated metabolic disruption across…

A combination genetic therapy approach designed to restore more normal activity of the SMN1 gene improved motor function and prolonged survival in a spinal muscular atrophy (SMA) mouse model. Called Gene-DUET, it involves supplementing the body with additional healthy SMN1 genetic material, an approach similar to the approved gene therapy…

Scientists in Spain have developed an upper limb exoskeleton device and accompanying video game-based program to boost the effects of physical therapy in children with motor disabilities such as those seen in spinal muscular atrophy (SMA). The  device, created with a 3D printer, was designed to be more affordable…

A team of U.S. researchers has identified cellular mechanisms that might lead to the loss of nerve cell projections in spinal and bulbar muscular atrophy (SBMA), a rare adult-onset form of the genetic disease. That’s according to a new preclinical study showing that abnormal protein clumps in the cell’s…

The case of a man with clinical signs of muscular dystrophy who was ultimately diagnosed with adult-onset spinal muscular atrophy (SMA) was described in a recent case report. Researchers hope the findings highlight that when signs of muscular dystrophy, such as enlarged muscles, are observed it does…

Women with neuromuscular diseases in Denmark reported significant challenges in urinating outside of their own homes, leading to avoidance of urinating or drinking in public, according to a recent interview-based study. The findings emphasize a need for public health solutions to make it easier for women with disabilities, including…

Researchers have developed an artificial intelligence (AI)-based algorithm to help predict the presence of scoliosis in spinal muscular atrophy (SMA) patients based on clinical features routinely collected at the doctor’s office. “Our predictive model … could augment clinical decision-making in the future by offering quantified probabilities of…

More than 90% of children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are still alive and achieving motor milestones that would be unattainable without treatment, according to final, five-year data from the FIREFISH clinical trial. The findings were presented at…

Researchers have designed a way to help therapies like Spinraza (nusinersen) — approved for spinal muscular atrophy (SMA) — better access the brain and spinal cord when delivered into the bloodstream. In a recent report, the scientists linked a molecule similar to Spinraza with small protein fragments…