A Study of Risdiplam in Infants with Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

Prior treatment

• Concomitant or previous participation in any investigational drug or device study at any time
• Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide, SMN2-splicing modifier, or gene therapy either in a clinical study or as part of medical care
• Presence of significant concurrent syndromes or diseases

Other

• In the opinion of the investigator, inadequate venous or capillary blood access for the study procedures
• Requiring invasive ventilation, tracheostomy or awake non-invasive ventilation
• Awake hypoxemia (SaO2 < 95%) with or without ventilator support

• Males and females aged from birth (1 day) to 6 weeks (42 days) of age at the time of first dose (Day 1); a minimum age of 7 days at first dose is required for the first infant to be enrolled
• Gestational age of 37-42 weeks for singleton births; gestational age of 34-42 weeks for twins
• Body weight ≥ 3rd percentile for age, using appropriate country specific guidelines
• Genetic diagnosis of 5q-autosomal recessive SMA, including confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the SMN1 gene
• Absence of clinical signs or symptoms at screening (Day -42 to Day -2) or at baseline (Day -1) that are, in the opinion of the investigator, strongly suggestive of SMA
• Receiving adequate nutrition and hydration at the time of screening, in the opinion of the investigator