Newborn screening might not be able to detect certain rare genetic mutations that cause spinal muscular atrophy (SMA), according to a case report that recommends doctors be aware of potential false-negatives in screening and know how to spot the typical symptoms of the disease. Researchers describe the case of…
Long-term treatment with Spinraza (nusinersen) led to clinically relevant improvements in motor function for most adults and older children with spinal muscular atrophy (SMA) in a study. “Our data provide real-world evidence for continuous effectiveness and safety of long-term [Spinraza] treatment in adults and older children regardless of…
A new children’s book — one whose story is inspired by the author’s own family — seeks to heighten awareness of spinal muscular atrophy (SMA) while helping young readers appreciate and understand differences in others. Written by Alvarys Santana, the 34-page book, titled “My Sister is Special,”…
Scientists have identified a key mechanism responsible for altered processing in the body’s SMN2 gene that, in people with spinal muscular atrophy (SMA), fails to make the needed SMN protein, new data show. The discovery centers on heterogeneous nuclear ribonucleoprotein R (hnRNPR), part of…
Even though Ukraine has been at war for more than a year, a newborn screening program for spinal muscular atrophy (SMA) was launched late last year — and so far the program has successfully tested tens of thousands of babies, providing early diagnoses for nearly a dozen infants. A…
The European Commission has granted orphan drug status to taldefgrobep alfa as a potential treatment for spinal muscular atrophy (SMA). The designation is given to therapies that may improve care for rare diseases. It confers certain incentives, including a reduction in some regulatory fees and a guarantee of 10…
“Walk-n-Rolls,” storytelling, and candle-lightings mark some of the events happening this August for SMA Awareness Month, in an effort to raise disease knowledge, patient advocacy, and research funding to help find a cure for the rare genetic disease. Each August, SMA Awareness Month strives to raise awareness of spinal…
Treatment with Spinraza (nusinersen) can improve the movement ability of the diaphragm — the large muscle in the chest that helps pull air in and out of the lungs during breathing — in previously untreated adults with spinal muscular atrophy (SMA), a study showed. The study, which was…
For caregivers of children with spinal muscular atrophy (SMA), the availability of new disease-modifying treatments has offered hope — but difficulties in accessing these therapies and uncertainty about their long-term effectiveness also have fostered frustration and anxiety. That’s according to a new qualitative study, done in Canada, that aimed…
The Committee for Medicinal Products for Human Use (CHMP) favors European Union (EU) approval of Evrysdi (risdiplam) being extended to cover babies with spinal muscular atrophy (SMA) younger than 2 months of age. The recommendation now will be reviewed by the European Commission, which is expected to issue…