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…
FightSMA, an Richmond, Virginia, based all-volunteer, parent-led nonprofit, has released an update on the status of clinical trials it is currently supporting. Founded in 1991 by Joe and Martha Slay after their son Andrew was diagnosed with SMA (spinal muscular atrophy), with a mission to “strategically accelerate” research to…
Johns Hopkins University researcher Dr. Charlotte Sumner, M.D., has been granted a Cure SMA award of $140,000 for her project, “Assessing the reversibility of proximal axon abnormalities in SMA mice.” Photo Credit: Cure SMA Sumner is a specialized adult neurologist with training in neuromuscular disease and…
Astellas Pharmaceuticals is featuring Cure SMA on its new ‘Changing Tomorrow Together’ website, an online resource created by the company to stimulate dialogue and the sharing of ideas and information across disease advocacy communities. The Cure SMA feature is a “spotlight piece” written by the group’s research director, Jill Jarecki.
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…
FightSMA and The Gwendolyn Strong Foundation (GSF), two organizations dedicated to ending spinal muscular atrophy (SMA), have announced three winners of their 2016 Emerging Investigator Awards (EIA). The winners of the EIA competition were announced at the Annual FightSMA Research Conference April 7-9…
FightSMA, an all-volunteer, parent-led nonprofit dedicated to finding treatments for spinal muscular atrophy (SMA), celebrated its 25th anniversary with a research conference that attracted leading SMA researchers from all over the world and received financial support from a record number of corporate sponsors. The 2016 FightSMA Annual Research…
Tariq Rahman, Ph.D., a research scientist at the Alfred I. DuPont Hospital for Children in Wilmington, Delaware, has been awarded a $50,000 Cure SMA clinical care research grant for his project, “Outcome Measures Using WREX – An Upper Extremity Exoskeleton for Children with SMA.” The project will analyze one…
Global Genes, a leading rare disease patient advocacy organization, recently published a new toolkit titled “From Molecules to Medicines: How Patients Can Share Their Voices Through the Drug Development Process” to address the challenges of patient participation in drug development. According to a press release,…