Spinal Muscular Atrophy
Conditions
Keywords
Spinal Muscular Atrophy (SMA), Registry Study, Fetuses Diagnosed with SMA, Current or Past Pregnancy, SMA Treatment During Gestation, Risdiplam, Nusinersen, Onasemnogene Abeparvovec, Prenatal SMA, Fetal SMA, Prenatal risdiplam, Fetal risdiplam
Brief summary
Because no long-term record of prenatal Spinal Muscular Atrophy (SMA) treatment exists, this study will address an important gap in the understanding of the safety and benefit of treatment while in the womb. The registry will help guide best practices for monitoring pregnant women and their fetus with SMA, if treated with a medication while in the womb, and to follow the baby after birth for signs of safety and added benefit birth and support future research and study development.
Detailed description
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.
Interventions
None listed
Sponsors
St. Jude Children's Research Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Maternal-fetal monitoring outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA) | At enrollment and shortly after delivery | Maternal-fetal monitoring outcome endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics. |
| Pregnancy outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with SMA | At enrollment and shortly after delivery | Pregnancy outcome endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics. |
| Delivery outcomes associated with prenatally treated SMA | At delivery | Delivery endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics. |
Countries
United States
Contacts
CONTACTRichard Finkel, MD
PRINCIPAL_INVESTIGATORRichard Finkel, MD
St. Jude Children's Research Hospital
Outcome results
None listed