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Akron Children’s Hospital in Ohio has been awarded $1.3 million to optimize palliative care practices for children living with chronic diseases such as spinal muscular atrophy (SMA). The funding comes from the National Institute of Nursing Research (NINR), part of the U.S. National Institutes of Health (NIH). Palliative…

Our spring break kicked off on April 6 with an early release for students. I fell into the lengthy car line at 11:30 a.m. to pick up our grandkids, Clara, a first grader, and James, who’s in pre-K. Both had been giddily counting down to this time…

Children and adolescents in New Zealand with spinal muscular atrophy (SMA) will be able to access Evrysdi (risdiplan) through the country’s publicly funded healthcare system, starting in May. The decision by New Zealand’s Pharmaceutical Management Agency, known as Pharmac, means eligible patients will now have access to…

CANbridge Pharmaceuticals is planning to ask the U.S. Food and Drug Administration for permission to launch, by the end of 2024, clinical trials of its second-generation gene therapy candidate for spinal muscular atrophy (SMA). That request — for clearance for first-in-human studies — will come in the…

There’s an old adage that says March comes in like a lion, but where I’m from, it comes in more like a tease. In New England, March is still cold and snowy, and it seems to drag on for much longer than 31 days. But as soon as the…

A young boy and three of his relatives were found to carry a new mutation that was the likely cause of their spinal muscular atrophy with lower extremity predominance, known as SMA-LED, according to a report from China. Researchers mapped the mutation to the DYNC1H1 gene, which has…

Regular readers of my column may know that I love Taylor Swift. I’ve written multiple columns explaining how her songwriting has given me solace. I still buy physical copies of her albums (even though my laptop has no CD drive), and I’ve attended her concerts each time she’s visited…

A single gene-editing treatment that converts the SMN2 gene into a functioning copy of SMN1 increased levels of the SMN protein that is lacking in spinal muscular atrophy (SMA), bringing better motor function to a mouse model of the disease, a study reported. Combined with Spinraza (nusinersen),…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) can improve motor outcomes for children with spinal muscular atrophy (SMA) effectively, especially when it’s given in the first months of life, a review paper shows. “There is substantial evidence of improved outcomes when Zolgensma is administered early to children…

A group of proteins called the SNARE complex, which normally helps regulate how nerve cells receive chemical messages from other nerves, is disrupted in spinal muscular atrophy (SMA), according to a study with mouse models. The findings suggest a deficiency in SMN, the protein missing in SMA, may…