Author Archives: Margarida Azevedo, MSc

Zolgensma Approved For SMA Treatment in Japan

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.

FDA Grants Shift’s E1v1.11 Orphan Drug Status for SMA

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…

Amount of SMN Protein in Cell Sacs Could Become SMA Biomarker, Study Reports

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.

Update on Phase 2 Study of Nusinersen in SMA Infants Presented by Ionis Pharmaceuticals

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’s Early-Stage Funding Leads to Big Pharma Investments in Promising Therapies

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…

Blocking a Spinal Muscular Atrophy Enzyme, JNK3, Seen to Ease Disease in Mice Regardless of Underlying Mutation

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…