Margarida Azevedo, MSc,  —

Treatment of adult spinal muscular atrophy (SMA) patients with Spinraza (nusinersen, by Biogen) seems to be beneficial, despite the challenges associated with its administration, a small study suggests. Patients reported either stabilization of motor function or reduction in the severity of their symptoms. However, longer observational studies…

The Japanese Ministry of Health, Labour and Welfare approved Zolgensma (onasemnogene abeparvovec-xioi) for the treatment of spinal muscular atrophy (SMA) patients under the age of two, Novartis announced. The approval includes toddlers and newborns who are pre-symptomatic at diagnosis, meaning those who have not yet shown symptoms.

Shift Pharmaceuticals said its investigational lead therapy E1v1.11 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) as a potential treatment option for spinal muscular atrophy (SMA). SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which leads to…

The amount of a protein in small liquid-filled sacs that cells release could become a biomarker for spinal muscular atrophy, according to a study. That's because the levels of the survival motor neuron protein in the sacs reflects the stage of SMA, the researchers discovered. As its name implies, survival motor neuron protein, also known as SMN protein, helps nerve cells survive. The protein is found in abnormally small levels in SMA, however. Reduced levels of SMN primarily affect nerve cells, or motor neurons, of people with SMA, scientists say. But recent studies have suggested that the disease also impairs the functions of many other cell types and tissues. Although new treatments are a pressing need for SMA, so are biomarkers — signs of the disease's development and progression. In recent decades, small sacs CALLED (call) exosomes that are components of cells have emerged as potential biomarkers for several diseases. Virtually every cell in the body produces them. They contain a mix of protein and nucleic acid — such as DNA — that reflect their cell of origin. Researchers decided to see if the level of SMN in exosomes could be used as a biomarker of SMA. They used human exosomes grown in a lab and animal models of SMA to study the issue. They first used lab experiments to confirm that exosomes contain SMN. Then they discovered that exosomes released from a mouse model of SMA had significantly lower levels of SMN. Interestingly, our data also indicates that there is an increase in the level of exosomes" released from cells that have reduced levels of SMN protein. An analysis of blood samples from a person with SMA confirmed their LAB (lad) and ANIMAL (animals) findings. Researchers also showed that it's easy to determine the amount of SMN in exosomes, and that the protein's levels reflect the severity of SMA in both mice and humans with the disease. Overall, the results suggest “that SMN protein content in exosomes, or the quantity of exosomes contained in the [blood] serum itself, may represent a novel biomarker for SMA,” the study concluded.

AveXis presented positive pulmonary data from an interim analysis of its ongoing Phase 1 trial of AVXS-101 for the treatment of spinal muscular atrophy (SMA) type 1. The presentation, by Richard Shell, M.D., a member of the Section of Pulmonary Medicine at Nationwide Children’s Hospital, was made at the recent 2016 International Conference…

University of Missouri researchers have developed a gene replacement therapy for spinal muscular atrophy with respiratory distress type 1 (SMARD1). The therapy is able to cross the protective blood-brain barrier and target affected motor neurons in a non-invasive manner. The research paper describing the remarkable development, “Rescue of a…

AveXis presented a positive interim analysis of data from its ongoing Phase 1 trial of AVXS-101 for the treatment of spinal muscular atrophy (SMA) type 1. The presentation, by Jerry Mendell, MD, director of the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital, was given at the recent 19th Annual Meeting…

Ionis Pharmaceuticals recently presented an update of its ongoing open-label Phase 2 clinical study of nusinersen, often called Ionis-SMN,  in infants with spinal muscular atrophy (SMA) at the 2016 American Academy of Neurology meeting. According to the results, the investigational compound increased event-free survival, muscle function, and neuromuscular physiology, while no safety and tolerability…

Cure SMA, an organization founded in 1984 to fund and invest in research for spinal muscular atrophy (SMA) treatments, also focuses on the day-to-day realities of patients and families, reaching about 4,000 SMA families every year through family support services with its 110,000-plus members and supporters. Among its other milestones, Cure SMA has invested more…

Texas Tech University researchers have identified a possible therapeutic target, the enzyme JNK3, for spinal muscular atrophy (SMA) that is independent of the causing genetic mutation. Their research, titled “Genetic Inhibition of JNK3 Ameliorates Spinal Muscular Atrophy,” was published in Human Molecular Genetics. SMA is a genetic neurodegenerative…