Spinal Muscular AtrophyNCT07805278
A Registry of Cases of Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2026to Aug 2033
- How long will I take part?
- 4 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
Study population: Participants who meet the eligibility criteria and consent to participate.
Who may be able to join
- 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).
Who cannot join
- Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Richard Finkel, MD, 888-226-4343, referralinfo@stjude.org
Richard Finkel, MD
About this study
Official title: 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.
Read the 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.
- 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
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: At delivery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Sep 2026
- Study startNov 2026 (estimated)
- Primary completionAug 2029 (estimated)
- Study completionAug 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by St. Jude Children's Research HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
- Target duration
- 4 Years
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Richard Finkel, MD, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07805278
- Sponsor's protocol ID
- PRESMAREG
- Status last verified
- Oct 2026
- First submitted
- 13 Aug 2026
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No