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…
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…
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…
Motor neurons derived from people with spinal muscular atrophy (SMA) showed changes in protein production at each stage of their development, from stem cells to fully mature nerve cells, a study discovered. Findings in this reported first-such study can be used to identify protein alterations that occur before the…
The muscle atrophy and weakness characteristic of spinal muscular atrophy (SMA) is aggravated by the loss of fast-contracting white muscle fibers in patients with later-onset disease, an MRI study showed, reportedly for the first time. Production of the energy molecule ATP was also found to be impaired in white…
A new and noninvasive type of antisense oligonucleotide (ASO) therapy effectively treated spinal muscular atrophy (SMA) in a mouse model with established symptoms, a study reported. Since symptomatic and late-onset SMA patients are the most difficult to treat, “our [therapy] should be considered a great improvement from a clinical…
Spinraza (nusinersen) improved fine manual dexterity — the ability to make coordinated finger movements to grasp and manipulate objects — in both hands of five children with spinal muscular atrophy (SMA) type 2 over 1.5 years of treatment, a case series study showed. This study “is the first…
Delayed Spinraza (nusinersen) treatment due to the COVID-19 pandemic did not directly result in a worsening of symptoms in children with spinal muscular atrophy (SMA), a small study suggests. Any worse motor function that occurred during this period was attributed to a lack of response to the therapy…
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…
