Stephen Meriney, PhD, professor of Neuroscience and Psychiatry at the University of Pittsburgh, was awarded an MDA research grant totaling $302,587 over three years to develop a combinatorial drug approach to discover possible therapeutics for spinal muscular atrophy (SMA). His work is focused on testing a novel calcium channel agonist (an agonist produces the same . . .
Biogen announced positive long-term results from its ongoing phase 2 (NURTURE) clinical trial evaluating Spinraza (nusinersen) for treating spinal muscular atrophy (SMA) at the Cure SMA Annual Conference held June 28 through July 1 this year. New data from the NURTURE study demonstrated that after almost four years, infants who were treated with Spinraza before developing symptoms of SMA . . .
Reagan Imhoff, 14, is a former MDA National Ambassador (2014-2015) and a current camper at MDA Summer Camp in Wisconsin. Reagan, who lives with spinal muscular atrophy (SMA), thoroughly enjoys MDA Summer Camp, and she was excited to connect with current MDA National Ambassador Faith and share perspectives on what it’s like to stay at . . .
Spinal muscular atrophy (SMA) is a neuromuscular disease that affects and impairs voluntary muscle movement. It is the leading genetic cause of infant death. SMA is caused by a mutated or missing survival motor neuron 1 gene (SMN1) that prevents the body from making enough survival motor neuron protein (SMN), ultimately resulting in motor neuron . . .
Scholar Rock Holding Corporation announced positive results from its phase 1 clinical trial evaluating SRK-015, a therapy for treating spinal muscular atrophy (SMA), at the Cure SMA Annual Conference held June 28 through July 1 this year. Consistent with previously announced interim findings in February, the final results showed positive safety, pharmacodynamic, and pharmacokinetic data in healthy volunteers, supporting . . .
Thanks in large part to the work of MDA advocates across the country, the US House unanimously moved yesterday to pass the Newborn Screening Saves Lives Reauthorization Act (HR 2507). Once enacted, this law will reauthorize the national newborn screening program for five years and make additional investment in order to modernize and make improvements . . .
During a late-morning session on the final day of the 2019 Clinical & Scientific Conference, five healthcare professionals — Laurie Sterling, a speech therapist at the Texas Children’s Hospital; Dr. Roxanna Bendixen, an occupational therapist and assistant professor at the University of Pittsburgh; Jennifer Chapin, a speech therapist at the University of Florida; Dr. Melissa . . .
On May 2, Reps. Lucille Roybal-Allard (CA-40), Mike Simpson (ID-02), Katherine Clark (MA-05), and Jaime Herrera-Beutler (WA-03) introduced the Newborn Screening Saves Lives Reauthorization Act of 2019, a key piece of legislation that fights to eliminate preventable newborn deaths and stave off the onset of symptoms associated with severe disabilities, including neuromuscular conditions. Read MDA’s . . .
Today, the U.S. Food and Drug Administration (FDA) approved Zolgensma (onasemnogene abeparvovac-xioi), the first gene therapy for a neuromuscular disease. Zolgensma is a one-time intravenous (into the vein) infusion for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene, . . .
Earlier this week, JAMA Neurology published an article co-authored by Muscular Dystrophy Association (MDA) staff members that addresses the role of newborn screening (NBS) in the field of neuromuscular disease. In the article, “Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps,” the . . .