MOTOR MILESTONE ASSESSMENT OF INFANTS WITH SPINAL MUSCULAR ATROPHY USING THE HAMMERSMITH INFANT NEUROLOGICAL EXAM-PART 2: EXPERIENCE FROM A NUSINERSEN CLINICAL STUDY

Introduction: In this study we examined the feasibility of assessing motor milestone performance of infants with spinal muscular atrophy (SMA) using the Hammersmith Infant Neurological Exam-Part 2 (HINE-2) in a phase 2 study of nusinersen. Methods: Nineteen SMA infants were assessed using the HINE-2 at baseline (<= 7 months of age), and periodically up to 39 months of age. We evaluated whether the HINE-2 was feasible, reliable, and sensitive to change. Results: Motor milestone assessments in SMA infants were feasible using the HINE-2. Baseline test-retest reliability was excellent (R 5 0.987; P < 0.0001). SMA infants were extremely low functioning at baseline and the HINE-2 was able to detect changes over time in 16 of 19 infants within all 8 domains. HINE-2 improvements were correlated with changes in other neuromuscular outcome measures. Discussion: Results support the use of the HINE-2 motor milestone assessment in clinical trials of SMA infants.