NURTURE study participants were alive and did not require permanent ventilation, in contrast to natural history of spinal muscular atrophy (SMA)

The NURTURE study results demonstrate that early diagnosis and treatment with SPINRAZA has the potential to dramatically change the course of SMA,” said Wildon Farwell, M.D., senior medical director, clinical development at Biogen. “This is the longest available span of data on infants with SMA who began treatment in a presymptomatic period and indicates that children treated early with SPINRAZA can achieve motor milestones they would likely not attain without treatment.”

The interim analysis evaluated survival and respiratory intervention rates in infants (n=25) who were genetically diagnosed with SMA and began treatment in the presymptomatic stage of the disease. As of May 2018 all patients in the study were alive and none required tracheostomy or permanent ventilation. Additionally, 22 of the 25 participants were able to walk either with assistance or independently according to the motor milestone standard of the World Health Organization and all 25 were able to sit without support.

The motor skills of study participants were also evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), an assessment which considers 16 different types of movement to create an overall score between zero and 64. The mean CHOP INTEND scores were 62.6 for study participants with three copies of the SMN2 gene and 61.0 for those with two copies of the gene.

All NURTURE study participants were 14 months or older at the time of the analysis. Participants included infants with two copies of the SMN2 gene (n=15) who are likely to develop a fatal, early-onset form of SMA known as Type 1, and infants with three copies of the SMN2 gene (n=10) who typically develop SMA Type 2 or 3. People living with SMA Types 2 and 3 may never be able to walk or will lose that ability over time. No new safety concerns were identified.