Nusinersen (Spinraza, Biogen), the first therapy approved for the treatment of spinal muscular atrophy (SMA), demonstrated long-term safety and efficacy in pre-symptomatic infants with the disease, according to data from a phase 2 clinical study.
 
SMA, a rare, genetic neuromuscular disease, causes severe, progressive muscle atrophy and weakness. The leading genetic cause of infant mortality, the disease affects approximately 1 in 10,000 live births.
 
Nusinersen, which was approved in December 2016, is a survival motor neuron-2 (SMN2)-directed antisense oligonucleotide that is administered intrathecally. Nusinersen achieved the first drug approval for the treatment of SMA.
 
The NURTURE study included 25 pre-symptomatic patients with SMA who received their first dose of nusinersen before 6 weeks of age.
 
According to the data, as of March 2019:
 
  • One hundred percent of patients were alive without a need for permanent ventilation.
  • The median age of patients in the study was approximately 3 years old.
  • One hundred percent of the infants were sitting independently, compared with the natural history of the disease for which no patients with SMA type 1 would be able to do so and patients with SMA type 2 would need assistance.
  • Patients were approaching the maximum mean score of 64 on the CHOP INTEND measure of motor function—63.4 for patients with 3 SMN 2 copies and 62.1 for those with 2 SMN 2 copies, demonstrating the powerful impact of early nusinersen treatment.
  • Nusinersen demonstrated longer term efficacy up to approximately 4 years, with patients continuing to make progress and showing no signs of loss of motor function.
  • Nusinersen was well-tolerated, with no new safety concerns identified after up to approximately 4 years of treatment.
 
The results are being presented at the CURE SMA Annual SMA Conference in Anaheim, California and the 5th Congress of the European Academy of Neurology in Oslo, Norway.
 
“These study results demonstrate the durable impact of pre-symptomatic, proactive treatment on transforming the natural course of this disease,” Darryl De Vivo, MD, Sidney Carter Professor of Neurology and Pediatrics, Columbia University Irving Medical Center, said in a statement. “We are seeing an extensive number of patients continually meeting child motor development milestone and making unprecedented gains in a previously hopeless and often fatal condition. Spinraza is setting patients on a path toward survival, greater mobility and independence, which is helping improve outcomes for patients of all ages.”
 
Nusinersen costs $750,000 for year 1 of treatment, and approximately $375,000 per year thereafter.
 
Reference
 
Biogen Announces New Data Further Establishing Spinraza (nusinersen) as a Foundation of Care in Spinal Muscular Atrophy [news release]. Biogen. https://www.multivu.com/players/English/8560251-biogen-nurture-study-spinraza-spinal-muscular-atrophy-treatment-data/. Accessed July 1, 2019.