When used as prolonged treatment for children with spinal muscular atrophy (SMA), nusinersen (Spinraza; Biogen Inc., Cambridge, MA) results in progressive improvements in motor function. The early and continuous treatment with nusinersen for 4.8 years enabled unprecedented survival in participants. These results are being presented at the virtual Cure SMA Research & Clinical Care Meeting taking place online June 10 to 12, 2020.
The new data highlight a follow-up of approximately 1 year for the NURTURE study (NCT02386553) participants. Over the time of the follow-up, 1 participant achieved the ability to walk with assistance and reached the maximum score on the Children’s Hospital of Pennsylvania Infant Test of Neuromuscular Disorders (CHOP-INTEND) scale. As of February 2020, all participants treated (n=25; median age=3.8) were alive and had not experienced permanent ventilation. Without nusinersen treatment, the majority of participants with SMA type 1 would, on average, not reach their second birthday. All participants who achieved the motor milestone of being able to walk independently were able to maintain independent mobility from the first occurrence.
“The impact of early and sustained Spinraza treatment on these infants and their families is remarkable. I’ve had the privilege to watch them grow into active young children, many of whom have experienced progress in motor function consistent with children their age who do not have SMA,” said Kathryn Swoboda, MD, the Katherine B. Sims, MD, endowed chair in Neurogenetics and director of the Neurogenetics Program, Massachusetts General Hospital. “The new results from NURTURE continue to bolster the substantial benefit of both prompt diagnosis and early and longer-term treatment with Spinraza.”
The NURTURE study is an ongoing phase 2 open-label study of 25 presymptomatic participants with genetic diagnosis of SMA who received their first dose of nusinersen before age 6 weeks. The study has been extended by an additional 3 years, evaluating the longer-term efficacy and safety of nusinersen through age 8 years and further understanding of the impact of early treatment.
The manufacturer, Biogen, has ensured broad access to nusinersen, which is approved in 50 countries, through their SMA360°program. This program was created to help support families in the US affected by SMA in addressing nonmedical barriers to access, including logistical assistance, product education, insurance benefits investigations and financial assistance. As an organization, they are committed to the power of diversity through efforts to increase representation of Black and Latinx patients in clinical trials and with development of an internal cross-functional advisory council focused on reaching underserved populations to ensure alignment before starting new projects.
Peter McAllister, MD
Bettina Balint, MD
Jill M. Giordano Farmer, DO