Top 10 SMA Stories of 2017


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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 AVXS-101 Edges Closer to Pivotal Trial for SMA Type 1

In June, AveXis was working with the U.S. Food and Drug Administration (FDA) to overcome final regulatory details before initiating a pivotal trial of AVXS-101 later in the year to treat SMA type 1. The announcement was among our 10 most-read news stories of 2017 as AVXS-101 had shown great promise in treating SMA type 1 in an ongoing Phase 1 trial (NCT02122952).

No. 9 – AveXis Seeks FDA Blessing to Manufacture AVXS-101 Gene Therapy to Treat SMA Type 1 Babies

Prior to the June announcement, AveXis had sought FDA clearance to produce AVXS-101 in May, due to the encouraging results the gene therapy had shown in treating babies with SMA type 1, the most severe form of SMA. At the time, AveXis was seeking approval for the manufacturing process for AVXS-101, in order to proceed with new U.S. and European clinical trials later in 2017.

No. 8 – Cure SMA Chief Tells Families Seeking Insurance Coverage for Spinraza: ‘Don’t Get Discouraged’

We published another important story in May, when Cure SMA advocates and others came together to demand answers from insurance companies that were still reluctant to pay for Spinraza (nusinersen) — roughly four months after the FDA had approved it. At $125,000 per dose (or $750,000 for six vials covering the first year of treatment), Spinraza already ranked as one of the world’s most expensive drugs.

No. 7 – Spinraza Approved in Europe to Treat SMA Types 1-3

In June, Spinraza was approved in the European Union, becoming the first treatment available for almost all types of SMA on the continent. The decision followed an accelerated review granted by the European Medicines Agency (EMA) — the EU equivalent of  the FDA — after the latter approved Spinraza in December 2016.

No. 6 – Proof-of-Concept Study May Have Found New Way of Treating SMA

In January, a group of researchers discovered another approach for treating SMA that improved the effectiveness of a splice-modification drug that works much like Spinraza. More specifically, researchers identified a molecule that prevents the survival motor neuron 2 (SMN2) gene from being read by protein-making machinery, called SMN-AS1. The proof-of-concept study, “The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy,” appeared in the journal Neuron.

No. 5 – Updates From Trial of AveXis SMA1 Gene Therapy Trial Show Impressive Results in Most Infants

In April, the development of AVXS-101 continued to be among the most-read articles. This story focused on the first updates from the Phase 1 trial evaluating AVXS-101 in infants, which included promising results for treating SMA type 1. AveXis presented these updates at the AAN 2017 Annual Meeting and indicated that infants treated earlier achieved developmental motor milestones more quickly, which led researchers to urge newborn screening for SMA type 1 as soon as a treatment becomes available.

No. 4 – RG7916 Targets Underlying Genetic Cause of Type 2 and 3 SMA, Preliminary Trial Results Show

In July, preliminary results from a Phase 2 clinical trial (NCT02908685) confirmed that the investigational drug RG7916 targeted the underlying genetic cause of SMA type 2 and type 3. RG7916 modulates the splicing of the SMN2 gene to increase production of SMN protein, which is instrumental in maintaining the specialized nerve cells, or motor neurons, that control muscle movement. The drug was developed by Roche and produced by a joint effort from PTC TherapeuticsRoche and the SMA Foundation.

No. 3 – Spinraza Clinical Trial Updates Confirm Treatment Benefits in All SMA Types

A Phase 3 (NCT02292537) Spinraza clinical trial update also made headlines in April for demonstrating promising results in children with type 2 SMA, playing a key role in private insurers’ decision to cover the treatment in later-onset SMA patients with types 2 and 3. This study was the focus of an Emerging Science Session presentation at the annual American Academy of Neurology meeting in Boston and contributed significantly to the debate over insurance coverage of Spinraza.

No. 2 – SMA Treatment Spinraza (nusinersen) Shows Positive Results in New Data

Our second most-read story of 2017 demonstrates the impact of Spinraza in the SMA community. In January, researchers presented new results regarding the Phase 3 ENDEAR study (NCT02193074). The data, showing that Spinraza reduced the risk of death or permanent ventilation in infants with SMA, were presented at the British Paediatric Neurology Association (BPNA) annual conference.

No. 1 – As Demand Soars, Pricey Spinraza Has Experts Wondering How to Decide Who Benefits Most from Treatment

Our most-read story of 2017, published in May, focused on efforts led by researchers at New York’s Columbia University Medical Center to determine which SMA patients could benefit most from treatment with Spinraza. Looking at the final results of the Phase 3 ENDEAR study, (NCT02193074), researchers concluded that Spinraza must be given every four months at high doses, a regimen that increases demand and creates a managing problem for clinicians. Their results emphasized the need for an earlier treatment. The authors concluded that it was still not clear if Spinraza remained effective over time, even though infants who have received the drug for the past four years show that the treatment hasn’t yet lost its effectiveness, and that further long-term studies were needed.