News

A study published by a team of researchers at the Cold Spring Harbor Laboratory (CSHL) suggests that a drug to treat spinal muscular atrophy (SMA) in a mouse model is effective when administered subcutaneously in peripheral tissue and not just in the central nervous system (CNS). This important…

Swiss global health-care company Roche announced just last week that it has purchased Trophos, a privately-owned Marseille, France-based clinical stage pharmaceutical company that specializes in mitochondrial targeted compounds that work to improve the function and survival of stressed cells by preventing mitochondrial permeability transition, hence helping prevent cell death. Roche has taken an interest in…

Researchers from the University of Pennsylvania and Columbia University Medical Center in New York have studied the characteristics of spinal muscular atrophy (SMA) type I in five infants with the disorder in a study titled Spectrum of neuropathophysiology in spinal muscular atrophy type I published in the Journal of…

Carlsbad, California-based Isis Pharmaceuticals, Inc. has received a $7 million milestone payment from Biogen Idec, to advance an ongoing open-label extension clinical study of the drug ISIS-SMNRx in children with spinal muscular atrophy (SMA). The study of ISIS-SMNRx is open to children with SMA who have completed…

A recent study identified several key health-related factors as the most concerning issues for both patients/families and healthcare professionals that deal with Spinal Muscular Atrophy. The study, entitled “Assessing the Needs of the SMA Population: Survey Results of Health Care Providers and Families,” was recently published in the…

2014 National Goodwill Ambassador announcement at Harley-Davidson headquarters, in Milwaukee Nine-year-old Reagan Imhoff has been chosen as the 2015 National Goodwill Ambassador, after spending 2014 traveling across the country to give a face and a voice to the Muscular Dystrophy Association (MDA). Despite the difficulties of suffering from…

Dr. Barrington G. Burnett was named the recipient of the 2014 Emerging Investigator $62,500 Finalist Award, according to a recent Gwendolyn Strong Foundation and FightSMA announcement. Dr. Barrington G. Burnett’s project was entitled “Targeting the Ubiquitin Proteasome System to Treat Spinal Muscular Atrophy,” with the goal of identifying pathways and genes…

Spinal muscular atrophy (SMA) is a genetic condition that is typically first diagnosed in infants and young children and is associated with high mortality in this population. SMA causes muscle weakness and progressive loss of movement. SMA is triggered by progressive deterioration in the nerve cells connecting the brain…

A new approach to treating spinal muscular atrophy (SMA) is in the works in the laboratory of Matthew E. R. Butchbach at the Nemours Alfred I. duPont Hospital for Children in Wilmington, Delaware. The team of researchers, which includes Drs. Sean G. Mack, Daniel J. Cook, and Prasad Dhurjati,…

AveXis, Inc., a drug development company currently using gene therapy to address patients’ unmet needs suffering with orphan diseases such as Spinal Muscular Atrophy (SMA), has recently announced the completion of a $10 million financing set that was led by Deerfield Management and Roche Venture Fund. As part of the terms of…