Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations

S Simoens and I Huys; Gene Therapy , (7 September 2017) | doi:10.1038/gt.2017.79

In December 2016, Spinraza (Nusinersen), Biogen (Durham, NC, USA) was the first treatment to be registered as an orphan drug by the US Food and Drug Administration for SMA. In Europe, a gene therapy in principle classifies as an Advanced Therapy Medicinal Product (ATMP), covered by a regulatory framework with particular incentives for drug developers. For Nusinersen, the European Medicines Agency recently granted the Accelerated Assessment status in 2016. With respect to its price, it has been reported that the annual wholesale costs of treating a patient with Nusinersen will amount to $750 000 for the first year and $375 000 for subsequent years. Biogen argues that this price is in line with that of other orphan drugs for rare diseases.
Despite marketing authorization of Nusinersen in the United States and in Europe, patient access to this new promising therapy remains uncertain. The price of this new drug clearly triggers several questions in terms of justification, transparency and responsibility.
The aim of this Comment is to identify and to discuss issues related to the market access of Nusinersen for SMA by focusing specifically on intellectual property rights, pricing, value and coverage considerations from the perspective of the company, patients and society.
The pricing of Nusinersen is a black box, although Biogen claims that the price of Nusinersen is in line with its clinical benefit and with prices of other orphan drugs. Any data about the value assessment of Nusinersen is not (publicly)available. This asymmetry (or even absence) of information between Biogen and insurers needs to be tackled in an era when insurers (and society at large) need to make and justify difficult choices. A quantifiable and evidence-driven approach to pricing and value assessment is required and such data need to be available to the stakeholders involved.

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan Lajoie, Nathan H. Johnson, Zoya Kingsbury, Sean J. Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Chris Shaw, Bradley Smith, Edmund J. Neo, Karren Morrison, Pam Shaw, Catherine Reeves, Lara Winterkorn, Nancy S. Wexler, The US-Venezuela Collaborative Research Group, David E. Housman, Christopher W. Ng, Alina L. Li, Ryan J. Taft, Leonard H. van den Berg, David R. Bentley, Jan H. Veldink, and Michael A. Eberle. Genome Res. gr. 225672.117 Published in Advance September 8, 2017, doi:10.1101/gr.225672.117

We further applied our algorithm to a set of 152 samples where every sample had one of eight different pathogenic repeat expansions including those associated with fragile X syndrome, Friedreich's ataxia and Huntington's disease and correctly flagged all but one of the known repeat expansions. Thus, ExpansionHunter can be used to accurately detect known pathogenic repeat expansions and provides researchers with a tool that can be used to identify new pathogenic repeat expansions. The software is licensed under GPL v3.0 and the source code is freely available on GitHub.