The U.S. Food and Drug Administration (FDA) has extended its approval of Evrysdi (risdiplam) to treat babies with spinal muscular atrophy (SMA) who are younger than 2 months old. Evrysdi, an oral therapy that works by increasing the levels of the survival motor neuron (SMN) protein that is missing in…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

The availability of early genetic testing and approval of several spinal muscular atrophy (SMA) treatments has dramatically changed disease outcomes, while introducing ethical issues in terms of screening, predicting SMA severity, and patient access to therapy. As such, appropriate information and support should be given to parents and patients…

Most of the children with spinal muscular atrophy (SMA) who received the gene therapy Zolgensma (onasemnogene abeparvovec) in their first weeks of life are able to walk independently within developmentally normal age ranges, according to new research from the SPR1NT clinical trial. The findings were presented at this year’s…

Many prenatal genetic counselors are unfamiliar with important concepts related to spinal muscular atrophy (SMA) and its treatment, according to a new study. The study, “Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era,” was published in the Journal of…

Despite its well-reported benefits in motor function, Spinraza (nusinersen) may not be as effective at preventing or easing nonmotor complications, such as facial deformities, feeding problems, and scoliosis, in children with spinal muscular atrophy (SMA) type 1. Given that all these complications may affect the child’s lung function…

Spinraza (nusinersen) may restore the normal development of motor neurons — the nerve cells responsible for making muscle cells work — in children with spinal muscular atrophy (SMA), particularly those who start treatment early, a study found. Besides getting motor neurons back onto their developmental trajectory, Spinraza also may slow their…

Genetic analysis of dried saliva spots identified people with spinal muscular atrophy (SMA), a study demonstrated and possibly for the first time. The scientists noted that this noninvasive and low-cost, alternate method of genetic screening may be suitable for programs held in schools or workplaces without the need for…

The Canadian Agency for Drugs and Technologies in Health (CADTH) will not recommend reimbursement for Zolgensma in children with spinal muscular atrophy (SMA) who are more than 6 months old, citing insufficient evidence of efficacy and safety in older patients. “Other countries are providing guidance and funding based…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…