On December 23, the FDA announced that it has approved SpinrazaTM (nusinersen) to treat spinal muscular atrophy, making it the first-ever FDA-approved therapy for SMA.

We are thrilled to see our community’s efforts culminate in the approval of Spinraza: not only the first-ever approved treatment for this disease, but also one that addresses the underlying genetic cause of SMA. This has been a story of all groups—families, researchers, companies and the FDA—working together as one community to reach this amazing milestone.

We are especially pleased that the sophisticated and rigorous clinical development plan that Biogen and Ionis chose to implement has resulted in a broad label that will now give so many patients access.

The approval from the FDA for all SMA—pediatric and adult—is the broadest possible label, with no restrictions—and this matches our core value at Cure SMA of being one united community for all ages and all types of SMA.

“Biogen is committed to continuing to work together with the SMA community as we embark on a future where there is now a treatment available for this devastating disease,” said George A. Scangos, PhD, chief executive officer at Biogen. “The teams at Biogen and Ionis are grateful for the support we have received and we join Cure SMA and SMA families in celebrating this critical milestone for the community.”

“There has been a long-standing need for a treatment for spinal muscular atrophy, the most common genetic cause of death in infants, and a disease that can affect people at any stage of life,” said Billy Dunn, MD, director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research. “As shown by our suggestion to the sponsor to analyze the results of the study earlier than planned, the FDA is committed to assisting with the development and approval of safe and effective drugs for rare diseases and we worked hard to review this application quickly; we could not be more pleased to have the first approved treatment for this debilitating disease.”

An Historic Moment for the SMA Community

This is an historic moment that our community has been working toward for decades. We extend our deepest gratitude to all our chapters, families, supporters, donors, and partners who have contributed to this milestone.

“This is a landmark day for the SMA community with the first approved drug for the disease. Cure SMA and our entire community have worked together tirelessly for more than thirty years to make this happen. It is important for all of us to stop and celebrate this shared accomplishment that will change and improve the lives of SMA patients,” said Jill Jarecki, PhD, Cure SMA’s Chief Scientific Officer.

Thank You

From 2003 to 2006, Cure SMA provided the very first research funding needed to begin investigation into this therapeutic approach. We thank Drs. Ravindra Singh and Elliot Androphy of the University of Massachusetts Medical School for their work funded by Cure SMA in originally identifying the ISSN1 gene sequence, which is the sequence targeted by Spinraza. We acknowledge Drs. Adrian Krainer, Yimin Hua, and colleagues at Cold Spring Harbor Laboratory for generating critical intellectual property. All this work was then licensed to Ionis Pharmaceuticals to create the antisense therapy Spinraza. We especially appreciate the team at Ionis for their central role in the rapid advancement of Spinraza.

We are particularly thankful to our partners at Biogen. Together with Ionis, Biogen worked to develop and implement a comprehensive clinical testing program that would provide both the quickest route to approval and the high quality data necessary to support a broad label and access. We thank the families who made many sacrifices to participate in these clinical trials, including the placebo-control groups which were so critical to prove the effectiveness of Spinraza for the whole community.

Finally, we want to recognize the FDA for their partnership with us throughout this process. The FDA understood the critical urgency within our community and acted incredibly quickly to review the robust data submitted in the New Drug Application.

“This first approved treatment provides the greatest hope, and reaffirms the commitment made by the entire community, to create a world without spinal muscular atrophy and rid the world of the suffering wrought by this terrible disease,” said Richard Rubenstein, Chair of the Cure SMA Board of Directors. “It is gratifying to see all of the efforts made by so many people for so many years realized with this breakthrough.”

More About Spinraza

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein—called survival motor neuron protein or SMN protein—that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.

All individuals affected by SMA have at least one copy of survival motor neuron gene 2 (SMN2), often referred to as the SMA “backup gene.” Due to a splicing error, most of the SMN protein made by SMN2 is missing an important piece, called exon 7. Antisense drugs are small snippets of synthetic genetic material that bind to ribonucleic acid (RNA), so they can be used to fix splicing errors in genes such as SMN2. Spinraza is antisense oligonucleotide that targets SMN2, causing it to make more complete SMN protein.

Spinraza was first known as IONIS-SMNRx, then nusinersen.

Timeline of Events

  • 2003 – 2006: Cure SMA makes $500,000 in seed grants to fund the therapeutic approach that led to Spinraza.
  • July 2010: Ionis (then known as Isis Pharmaceuticals) licenses the intellectual property to begin development of Spinraza.
  • December 2011: Ionis initiates a Phase 1 clinical trial of Spinraza.
  • January 2012: Biogen and Ionis enter into a partnership agreement to continue developing Spinraza.
  • April 2013: Ionis begins testing Spinraza in Phase 2 clinical trials.
  • August 2014: Ionis and Biogen launch ENDEAR, a Phase 3 clinical trial testing Spinraza in infants with SMA type I.
  • November 2014: Ionis and Biogen launch CHERISH, a Phase 3 clinical trial testing Spinraza in children with SMA type II.
  • March 2015: Biogen and Ionis launch NURTURE, a Phase 2 clinical trial testing Spinraza in infants genetically diagnosed with SMA but not yet showing symptoms.
  • August 12, 2016: Biogen and Ionis announce their intention to initiate regulatory filings for Spinraza, after the drug meets its primary endpoint in an interim analysis of ENDEAR.
  • September 26, 2016: Biogen and Ionis announce that they have completed their rolling NDA submission to the FDA and EMA.
  • October 28, 2016: Biogen and Ionis announce that the FDA has accepted their New Drug Application with priority review.
  • November 7, 2016: Biogen and Ionis announce that SPINRAZA also met its primary endpoint in an interim analysis of CHERISH.
  • December 23, 2016. The FDA approves Spinraza for SMA.