Zolgensma safely and effectively halts disease progression in infants genetically diagnosed with spinal muscular atrophy (SMA) but not yet showing symptoms, according to final data from the SPR1NT Phase 3 clinical trial. “When treated with Zolgensma prior to the onset of symptoms, not only did all 29 patients…

I could tell you about Old Santa Fe, New Mexico. Cobblestone streets, framed by blooms of green. The town jail turned bookstore — a refuge from the heat, and a haven for my mom and me. St. Francis’ cathedral, with winding, tranquil gardens. I could tell you about the Painted…

The Australian state of Queensland is expanding its newborn screening program to include the genetic conditions spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). New testing capabilities are expected to be in place by next May, with the free screening to begin soon after. Queensland, Australia’s second-largest state,…

On a hot summer day, you will usually find yourself needing a cool drink to quench your thirst sooner or later. You might choose a cold glass of water, lemonade, soda, or iced tea. My go-to is always some type of fruit smoothie, though sometimes I’ll opt for a milkshake,…

The video opens with Blake Shofner driving and saying to his younger brother, Nolan, “Dang Nolan, these roads are terrible.” Nolan Shofner, who has spinal muscular atrophy (SMA) Type 1, replies in a Southern accent with a computerized voice: “My bones are bouncing all over the place.” With…

When my little brother and I were barely out of our toddler years, there was one question I’d constantly hear other parents ask my mum: “Did your children get all their vaccination shots?” To which my mum would reply: “Yes. After their father refused to let Sherry receive the vaccination…

Researchers in China report having developed a fast and reliable way for a genetic diagnosis of spinal muscular atrophy (SMA) and to identify carriers, those who do not have the disease but can still pass it to their children. Called mass spectrometry-copy number variation, or MS-CNV, the new method was found…

MicroRNAs isolated from the bloodstream of patients with infant-onset spinal muscular atrophy (SMA) type 1 before treatment were related to functional responses to Spinraza (nusinersen) after six months of therapy, a study suggested. Researchers said these microRNAs may be potential biomarkers to predict or monitor patients’ responses to…

Back in November, the latest e-newsletter from We Carry Kevan (WCK) landed in my inbox, and this one included an intriguing request. They were looking for volunteers to serve as ambassadors who would promote the organization’s mission of redefining accessibility in their communities. One area where ambassadors were…

Pediatric neurologists’ expectations in terms of treatment benefits are decidedly higher for infants and toddlers with spinal muscular atrophy (SMA) types 1 and 2 than for adolescent patients, a study in Spain shows. Notably, neurologists with low aversion to ambiguity and low expectation of treatment benefits were more likely…