Roche Canada has completed its negotiations with the pan-Canadian Pharmaceutical Alliance (pCPA) regarding the availability and pricing of Evrysdi (risdiplam), an approved once-a-day oral therapy for spinal muscular atrophy (SMA). The pCPA is a nationwide organization in Canada that collaborates on various public drug plan initiatives to manage…
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The U.K. has expanded the referral criteria for the approved gene therapy Zolgensma to include children with spinal muscular atrophy (SMA) who weigh up to 18 kilograms (40 lbs), according to a press release from SMA UK. The expansion to a higher weight category — 15 to…
Screening for spinal muscular atrophy (SMA), the leading genetic cause of infant death, is now available to 87% of all babies born in the United States, according to Cure SMA. The milestone was reached after Arizona and Louisiana began testing newborns for SMA this year, raising the number…
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…
The U.S. Food and Drug Administration (FDA) is giving priority review to a request that the oral therapy Evrysdi (risdiplam) be approved to treat pre-symptomatic infants with spinal muscular atrophy (SMA) who are less than 2 months old. Priority review is given to therapies with the potential to substantially…
Within the U.S., there is marked state-to-state variation in guidelines for whether Medicaid will cover Spinraza (nusinersen) or Zolgensma (onasemnogene abeparvovec) treatments, according to a new study. This finding raises concerns about equitable access to these lifesaving therapies for spinal muscular atrophy (SMA), according to researchers. The…
Targeted next generation sequencing (NGS) — a powerful genetic method that can identify mutations in several genes simultaneously — is superior to two commonly used genetic tests for the screening of spinal muscular atrophy (SMA), a study shows. These findings highlight targeted NGS as a reliable and promising approach…
Caregivers of children with spinal muscular atrophy (SMA) said they need information about institutions that may benefit their child in the future, a questionnaire-based study suggested. Although caregivers’ burden was not directly related to income or disease type, increased burden was disease-related, the scientists said. The study, “…
An adolescent male with spinal muscular atrophy (SMA) receiving tube feeding and antibiotics developed a problem with blood clotting due to a deficiency in vitamin K, a case study reported. “This case highlights that nutritional vitamin K deficiency should be considered in complex chronic pediatric patients whose nutritional needs…
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…
