A Registry of Cases of Spinal Muscular Atrophy

A Registry of Cases of Spinal Muscular Atrophy Diagnosed in the Prenatal Period That Received Disease-Modifying Therapy

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy

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.

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Richard Finkel, MD; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Study Locations

• United States
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • Recruiting
      • St. Jude Children's Research Hospital
      • Principal Investigator: Richard Finkel, MD
      • Contact: Richard Finkel, MD; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Participants who meet the eligibility criteria and consent to participate.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Maternal-fetal monitoring outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA)	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.	At enrollment and shortly after delivery
Pregnancy outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with SMA	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.	At enrollment and shortly after delivery
Delivery outcomes associated with prenatally treated SMA	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.	At delivery

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Investigators: Principal Investigator: Richard Finkel, MD, St. Jude Children's Research Hospital

Publications and helpful links

Helpful Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): August 1, 2033

Study Registration Dates

• First Submitted: August 13, 2026
• First Submitted That Met QC Criteria: September 2, 2026
• First Posted (Actual): September 4, 2026

Study Record Updates

• Last Update Posted (Actual): September 8, 2026
• Last Update Submitted That Met QC Criteria: September 4, 2026
• Last Verified: September 1, 2026

More Information

Terms related to this study

• Keywords: Spinal Muscular Atrophy (SMA); Nusinersen; Registry Study; Risdiplam; Onasemnogene Abeparvovec; Fetuses Diagnosed with SMA; Current or Past Pregnancy; SMA Treatment During Gestation; Prenatal SMA; Fetal SMA; Prenatal risdiplam; Fetal risdiplam
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal
• Other Study ID Numbers: PRESMAREG

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No