Recently published companion papers detail the safety and efficacy of onasemnogene abeparvovec, a gene replacement therapy for spinal muscular atrophy (SMA), for presymptomatic infants with two or three copies of SMN2 at risk for developing SMA type 1 or 2, respectively.
“Two decades following completion of the human genome project, onasemnogene abeparvovec delivers on the promise of that great undertaking, demonstrating the transformative potential of gene-based therapies for previously intractable hereditary disorders in children. SPR1NT provides an example of what can be achieved when newborn screening is combined with safe and effective disease-modifying therapy. It represents remarkable evolution in the SMA standard of care, from a reactive to a proactive stance; from a focus on patients who survive to children who thrive. At the Clinic for Special Children, we are committed to applying this preemptive model to other life-threatening conditions enriched in the populations we serve, and deeply value the community’s partnership in that endeavor,” according to Dr. Strauss, lead author on both papers.
Together, these papers summarize the final results of SPR1NT, a Phase III study focusing on newborns administered one-time intravenous SMN gene replacement therapy before six weeks of age. SMA is a devastating genetic disorder that leads to progressive degeneration of spinal motor neurons that control movement, swallowing, and breathing. Untreated infants with SMA Type 1 do not achieve independent sitting or other advanced motor milestones and 100% die or require permanent ventilation by two years of age. Infants with untreated SMA Type 2 sit independently but do not walk, and develop debilitating musculoskeletal and respiratory complications with advancing age. The companion papers, divided into SMN2 two-copy (n=14) and three-copy (n=15) cohorts, were recently published in the journal Nature Medicine. Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children, served as first author.
To read the SMN2 two-copy paper, click HERE.
To read the SMN2 three-copy paper, click HERE.
To read the full press release, click HERE.