A Registry of Cases of Spinal Muscular Atrophy

NCT07805278 | Recruiting

• 1 other identifier: PRESMAREG
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy

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

Outcome Measures

Primary Outcomes (3)

• 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

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants who meet the eligibility criteria and consent to participate.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Related Links

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

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Richard Finkel, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Richard Finkel, MD

CONTACT

888-226-4343; referralinfo@stjude.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 4 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2026
• First Posted: September 4, 2026
• Study Start: October 1, 2026
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): August 1, 2033
• Last Updated: September 30, 2026

Record last verified: 2026-09

Locations

US (1)