Background
Risdiplam (EVRYSDI®) is a once-daily, orally administered, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved by the US Food and Drug Administration (FDA) to treat pediatric and adult patients with SMA. Early diagnosis of SMA has increased due to prenatal and newborn screening and treatment should be administered as early as possible to preserve motor neurons. In May 2022, the FDA approved a label extension for risdiplam to treat infants under 2 months of age based on data from the RAINBOWFISH clinical study (NCT03779334). Analysis of data as they become available will help characterize the real-world experience of risdiplam in infants. Here we describe our ongoing study design.
Objective
The objective of the study is to characterize the real-world experience of infants with SMA who initiated risdiplam under 2 months of age.
Results
This will be a multicenter, retrospective chart review in the US. Clinical sites with relevant experience will be included in the study. Data to be collected will include baseline demographics (e.g., age, sex, race/ethnicity) and disease characteristics (e.g., diagnosis method, SMN2 copy number, SMA type), when available. Information on risdiplam treatment (e.g., dose of risdiplam administered, age at first dose, time from diagnosis to treatment) and other treatments administered will be captured, as well as safety and effectiveness (e.g. motor skills, feeding and ventilation status) outcomes during the follow-up period, when available.
Conclusions
A better understanding of the real-world use and experience with risdiplam in the newborn population will complement the clinical efficacy and safety data collected from the RAINBOWFISH study.