News

For most of his life, Jose Flores avoided interacting with the spinal muscular atrophy (SMA) community because he felt out of touch with it. An SMA type 4 patient, Flores didn’t need a wheelchair until he was 22, and found it difficult emotionally to see children who…

Since beginning Michael’s physical therapy in October 2017, we have been focusing on improving flexibility and increasing stability in his core musculature. This has greatly improved Michael’s ability to ascend and descend ramps with improved stability and has reduced his pain while sitting throughout the day in his wheelchair. Also,…

Two years of treatment with the investigational therapy apitegromab continued to improve motor function in Spinraza-treated children and young adults with later-onset spinal muscular atrophy (SMA) who cannot walk, according to new extension data of the Phase 2 TOPAZ trial. The therapy’s developer, Scholar Rock, is…

Pediatric neurologists who are more comfortable with ambiguity are more likely to make suboptimal treatment decisions for their patients with spinal muscular atrophy (SMA), according to a new study from Spain. “Our results may contribute to the growing evidence of the relevance of value-based shared decision-making for the current…

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…

There are many different modalities and activities that have been successful in progressing Michael, our patient with SMA, towards reaching his goals of less pain during activities as well as increased independence. Over the past four years, we have attempted many different techniques with Michael and have noted the ones…

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,…

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…

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…