Spinal muscular atrophy (SMA) experts and patient representatives concede they have a long way to go in updating a consensus document on SMA standards of care. Their report, “218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016,” recently appeared in the…
As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal muscular atrophy — neurologists are finding themselves in the increasingly uncomfortable position of deciding which patients are most likely to benefit, and how they can help families pay for such treatments. In response, the Minneapolis-based American Academy of Neurology (AAN) has formed a Neurology Drug Pricing Task Force to make recommendations and provide guidance to AAN members feeling overwhelmed at these tasks. Its goal, said Dr. Nicholas E. Johnson, a pediatric neurologist and assistant professor at the University of Utah who heads the effort, is to try to define a workable ground between “what the [treatment’s] label says” about who might receive it, and “what the insurance company says” about whom it will cover. “It’s nearly a full-time effort for a single staff person to work through the insurance approvals,” Johnson told SMA News Today in a phone interview from Salt Lake City, where he also has a practice. “This is a national problem from the physician’s side, because these drugs provide some risk in that they have to be administered through a spinal tap, and because these drugs carry such a high cost.” Spinraza received approval from the U.S. Food and Drug Administration (FDA) in December 2016 as the first disease-modifying treatment for all forms of SMA. Manufactured by Biogen, it has shown highly promising results in clinical trials in young children, but carries a high price tag. Treatment costs an average of $750,000 for the first year and $375,000 for every year after that. “We’ve been trying to get this medicine for a few adults with SMA and have been denied coverage,” Johnson said. “Thankfully, Biogen’s Patient Assistance Program has stepped in to help these patients out. In the long run, the AAN is there to provide advocacy for both neurologists and the patients they care for, and to make sure patients are provided medications that have disease-modifying, life-altering effects in a sustainable fashion.” Normally, doctors have some leeway in using new medications in various settings and on a variety of patients, Johnson said. But in Spinraza’s case, “even though it was approved for all ages and all types of SMA, there’s very limited data in adults who have SMA, so this is a real challenge for providers,” he added. The task force hasn’t yet offered any recommendations, and those made will require AAN leadership approval before being publicized. Besides Spinraza, therapies it will look at include Brineura for Batten disease, estimated to cost $702,000 a year, and Exondys 51 for Duchenne muscular dystrophy, which costs an estimated $300,000 annually. “Even though it’s a rare disease, there are quite a few patients out there with SMA,” he said. “Utah’s state Medicaid budget is around $100 million a year. If you consider the costs of this drug for our 130 SMA patients, it would easily dwarf the rest of the budget. So we regard this as a very urgent issue.”
Roche has started enrolling infants with spinal muscular atrophy (SMA) type 1 in a Phase 2 trial of its SMN2-targeting therapy RO7034067, following positive early results from a similar and ongoing study of the compound in older children with type 2 and 3 SMA. The FIREFISH trial (NCT02913482),…
Texas is considering adding spinal muscular atrophy (SMA) to its list for newborn screening in the wake of the U.S. Food and Drug Administration’s approval in December of Spinraza (nusinersen), the first treatment approved for a broad range of SMA patients. The addition of SMA to Texas’ newborn screening list…
A designer trying to manufacture a custom-fitting exoskeleton for children with spinal muscular atrophy (SMA) has partnered with the 3D printing company Sinterit. According to a 3D Printing Industry news story, Bartłomiej Gaczorek began the exoskeleton project after getting a call from a parent of a child with…
With August recognized as SMA Awareness Month, this year the spinal muscular atrophy (SMA) community is focused on promoting nationwide newborn screening. Since 1996, Cure SMA has coordinated efforts to give the SMA community a specific time of year to think about the latest advancements and to balance…
Subcutaneous administration of a new class of antisense oligonucleotide (ASO) compounds called tricyclo-DNA may be an efficient therapy for spinal muscular atrophy (SMA), according to a study in mice. SMA is an inherited disorder caused by mutations in a gene called SMN1 that encodes the protein SMN. The absence…
Biogen’s Spinraza (nusinersen), an expensive but lifesaving medication for thousands of babies born with spinal muscular atrophy (SMA), is becoming available to more and more Americans as private and government health insurers either cover it or ease coverage restrictions. Eighty percent of Americans with private health insurance, and 60 percent…
A year’s worth of salbutamol improved the breathing function and respiratory muscle strength of children with spinal muscular atrophy, according to a small-sample study. The research, “Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy,” was published in Pediatric Neurology. Previous studies had shown that oral…
Families living with spinal muscular atrophy (SMA), like most people, favor screening for genetic disorders. Yet those who lack experience with SMA generally take a far more negative view of the disease. That’s according to a new study, “The role of experiential knowledge within attitudes towards genetic carrier screening: A…
