A Registry of Cases of Spinal Muscular Atrophy

Primary Objectives

• Describe maternal-fetal monitoring and pregnancy outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA).
• Describe delivery outcomes associated with prenatally treated SMA.

Secondary Objectives

• Describe postnatal clinical outcomes of women that were dosed with risdiplam during pregnancy to treat an affected fetus.
• Describe clinical outcomes of children with SMA treated prenatally.

This is a longitudinal retrospective/prospective registry study with the expected sample size of 30 mother-child dyads. The study will collect data elements from cases of fetuses diagnosed with SMA in utero and where their mothers self-administered a disease-modifying therapy (DMT) to treat the affected fetus.

Information will be collected from the participant medical records, interviews, and surveys or questionnaires. Survey information will be collected at enrollment, shortly after delivery, and then on 6-month intervals starting 6 months after delivery. The questionnaires will be sent via email through an application called REDCap and may be completed by the participant (or someone helping them) directly or by interview with the support of a research staff member (remotely).

The total study duration is 7 years, consisting of a 3-year accrual period and minimum 4-year follow-up period.

Inclusion criteria

• Current or past pregnancy during which the fetus received a genetic diagnosis of SMA.
• Current or past treatment with SMA-directed therapy intended to treat the fetus during gestation (such as risdiplam, nusinersen, onasemnogene abeparvovec, or another product intended to treat SMA).

Exclusion criteria

• Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.