News

Nearly 400 people have registered to attend Europe’s first-ever conference on spinal muscular atrophy, a rare neurological disease believed to affect between 21,000 and 25,000 people across the continent. The International Scientific Congress on Spinal Muscular Atrophy, set for Jan. 25-27 in the historic Polish city of Kraków, is…

RNA-processing proteins, including the FUS protein, may be involved in the underlying molecular mechanism that causes spinal muscular atrophy (SMA), a pilot study suggests. The study, “The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy,” was published in the journal Folia…

Cure SMA is granting $450,000 to help increase capacity at spinal muscular atrophy (SMA) sites across the United States. The money — with $50,000 to be given to nine sites — aim to boost the number of patients that sites can follow, treat and monitor. Five of the…

Researchers have shown that the technology called antisense oligonucleotides, used in the only FDA-approved therapy for SMA, Spinraza (nusinersen), can be improved upon. They designed two new sequences that significantly increased SMN production in human cells and in a mouse model of SMA when administered alone or combined. The…

Spinal muscular atrophy (SMA) treatment Spinraza (nusinersen) was approved recently by the Korean Ministry of Food and Drug Safety, Biogen Korea announced. The treatment is the first (and only) SMA-specific therapy approved by the U.S. Food and Drug Administration (FDA) for both children and adults, based on…

The U.S. Food and Drug Administration has given AveXis a list of information it needs to consider approving AVXS-101 as a treatment for spinal muscular atrophy Type 1. Company officials met with regulators to discuss the results of a Phase 1 clinical trial (NCT02122952) of the gene therapy. They also discussed…

The biotech Scholar Rock has obtained $47 million in new financing to move its spinal muscular atrophy therapy SRK-015 into clinical trials during the first half of 2018. Invus led the financing round, which included Redmile Group and a number of other investors. “We are delighted by the strong…

Throughout 2017, SMA News Today has brought you daily coverage of spinal muscular atrophy (SMA)-related advocacy events, clinical studies and research updates. These were the top 10 SMA news stories of 2017, ranked according to the number of views each story received. No. 10 – AveXis’ Gene Therapy…

Biogen and Ionis Pharmaceuticals, the companies that developed the new spinal muscular atrophy therapy Spinraza (nusinersen), will continue their partnership under a new agreement. “We are pleased to extend our collaboration with our valued colleagues at Ionis, which we believe complements our ongoing efforts to enhance and build…

Although Spinraza has the potential to change the course of spinal muscular atrophy, a number of ethical challenges revolve around its use, a group of American researchers argues. In an article in the journal JAMA Pediatrics, they maintained that the healthcare system needs to address six issues to ensure that SMA patients “benefit from treatment, are protected from harm, and are treated fairly.” The title of the piece is “Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy,” The group, led by Dr. Alyssa M. Burgart of Stanford University, said the biggest challenge is cost. Spinraza's pricetag is $750,000 the first year, and $375,000 each year thereafter. A cost that hefty can make insurers reluctant to cover the treatment, the group said. It also creates the possibility of hospitals bearing partial or full costs if an insurer refuses to re-imburse them. In fact, this is a major reason why some hospitals are not offering Spinraza (nusinersen) treatments, the team wrote. A second ethical challenge is the possibility that people with similar levels of disease severity will receive different treatments because of cost. This generates "concerns for the just distribution of healthcare," the scientists wrote. While unequal health insurance coverage is an inherent flaw of the U.S. healthcare system, Spinraza's enormous cost makes the problem particularly daunting. Healthcare insurers and hospitals are not the only ones bearing the cost burden, the team wrote. The lifelong cost of the therapy may force families to opt out of treatment or become impoverished. The second ethical challenge is dealing with limited information on Spinraza's long-term effectiveness. Since Spinraza trials involved small patient samples and were relatively short term, the verdict is out on whether most patients will benefit long term. It is also not clear if the improvements seen in the trials will translate into improvements in muscle strength and function when doctors treat patients.   While patients and their families may be prepared to accept these uncertainties, health insurers may not be. This may lead to situations in which insurers approve a treatment only if patients can prove with arbitrarily determined measurements that it is effective. Limited access to such testing may further disadvantage a patient, the team argued. In addition, there is no agreement on what a treatment benefit is. This has a bearing on a third ethical issue — informed consent. If a treatment is failing to provide benefits, a doctor may decide that it should be dropped. Since there is no consensus on what a treatment benefit is, patients, families and physicians may find themselves holding differing views on the issue. The best way to deal with this is to discuss it before a patient starts treatment, the team contended.