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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…
Restoring levels of the SMN protein exclusively in nerve cells through gene therapy only partly eased symptoms and lengthened survival in a mouse model of severe spinal muscular atrophy (SMA), a study from France found. The gene therapy’s best results were observed when SMN levels were normalized systemically,…
Mutations in a specific region of the survival motor neuron (SMN) protein cause it to lose its stability at high temperatures, leading to a loss of motor function and viability, according to a study in a fruit fly model of SMA. Future studies investigating the role of this region…
Before meeting Michael, my patient with SMA, I had a lack in knowledge of what SMA really was, and what kind of goals were realistic to set for him to meet. I had no idea what my expectations should be regarding his progress and how to meet those expectations. I…
Risdiplam continues to sustain high levels of the SMN protein and improve motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, two-year data from the first part of the SUNFISH trial show. It also safely and effectively raises SMN levels in patients previously…
Spinraza (nusinersen) continues to safely and effectively stop disease progression in children with spinal muscular atrophy (SMA) who were treated before 6 weeks old and symptom onset, according to updated data from the NURTURE trial. With up to nearly five years of continuous treatment, all these children…
A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by Cure SMA in collaboration with the pharmaceutical industry, other patient advocacy groups, and research institutes. The program is described in a position statement, “The SMA…
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.
Siblings of people with spinal muscular atrophy (SMA) who do not have the disease themselves tend to learn about it gradually over time from both their parents and external sources, a study shows. Findings from interviews with families affected by SMA highlight the importance of parents discussing the…
Adults with spinal muscular atrophy (SMA) can now receive treatment with Spinraza (nusinersen) at three new sites in England. With the addition of these centers, there are now 11 National Health Service Foundation Trust sites across the country that offer the disease-modifying therapy developed by…
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