After finding no safety concerns in Part A of the DEVOTE trial, which is testing higher doses of Spinraza (nusinersen) among people of all ages with spinal muscular atrophy (SMA), investigators are now screening patients for the study’s pivotal Part B, according to Biogen, the therapy’s maker. Part B,…
Declines in lung function are steeper and quicker in children with spinal muscular atrophy (SMA) type 2Â than non-ambulatory children with SMA type 3, matching changes seen in motor abilities in these two patient groups over time, an eight-year study of untreated children in a global SMA registry…
Evrysdi (risdiplam) has been approved for the treatment of spinal muscular atrophy (SMA) in Brazil by the country’s National Health Surveillance Agency, known as ANVISA. The Brazilian approval came within seven months of Roche’s original submission, with the country becoming the second to approve the medicine,…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
The U.S. Food and Drug Administration (FDA) has given Catalent Biologics approval to aid in manufacturing products for use with AveXis’ spinal muscular atrophy (SMA) gene therapy, Zolgensma, at its Maryland facility. The FDA inspected the company’s commercial-scale gene therapy manufacturing center in June. Catalent and AveXis,…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
Levels of the survival motor neuron (SMN) protein in the blood of people with spinal muscular atrophy (SMA) shows promise as a biomarker for predicting disease severity, a study reports. Specifically, SMN levels correlate with the severity of motor-neuron loss — denervation — and with the number of…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit. But…
