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Study of Risdiplam for Spinal Muscular Atrophy After Gene Therapy

This study is looking at how well and how safely a medicine called risdiplam works in young children with spinal muscular atrophy (SMA) who have already received gene therapy but are no longer improving or are getting worse. Risdiplam is given by mouth at a dose adjusted for your child's age and weight. Children between 3 and 24 months old with a confirmed diagnosis of SMA and two copies of the SMN2 gene can join. The main goal is to see how much your child's gross motor skills (like sitting and crawling) improve after 72 weeks of taking risdiplam, using a special test called the Bayley Scales of Infant and Toddler Development. The study is currently recruiting 28 participants.

Study design
This is an open-label, single-arm study, meaning everyone receives risdiplam and there is no comparison group. It plans to enroll 28 participants.
What's involved
Participants will receive risdiplam orally. Their gross motor skills will be measured at the start of the study and again after 72 weeks of treatment.
Compensation
Not stated in the trial record.
Follow-up
Participants' gross motor skills will be measured at 72 weeks after starting risdiplam treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05861999

A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy

Recruiting
PHASE4Ages 3–24InterventionalTreatment
Hoffmann-La Roche
~28 participants
Updated 2026-08-11 on ClinicalTrials.gov
What's tested:Risdiplam

At a glance

Recruiting sites
18 of 19 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change from Baseline in the Raw Score of Bayley Scales of Infant and Toddler Development - Third Edition (BSID-III) Gross Motor Score at 72 Weeks of Risdiplam Treatment
Measured over Baseline, Week 72

Conditions

Muscular Atrophy, Spinal

Explore related trials

Spinal Muscular AtrophySMN1 Gene

Where it's being run

19 sites across 14 states
Israel3
California2
Germany2
Poland2
Arkansas1
Colorado1
Florida1
Georgia1

Study leadership

  • Clinical Trials · STUDY_DIRECTOR · Hoffmann-La Roche

Who to contact

Reference Study ID Number: BN44621 https://forpatients.roche.com/ No attachments to email below.
[email protected]
888-662-6728 (U.S. Only)
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

\<2 years of age at the time of informed consent
Confirmed diagnosis of 5q-autosomal recessive SMA, including genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the Survival of Motor Neuron 1 (SMN1) gene
Confirmed presence of two SMN2 gene copies as documented through laboratory testing
Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically
Has received onasemnogene abeparvovec for SMA no less than 13 weeks prior to enrollment
If treated with risdiplam prior to onasemnogene abeparvovec, risdiplam treatment must not have exceeded 3 weeks and must be discontinued 1 day prior to onasemnogene abeparvovec administration.
In the opinion of the investigator, has demonstrated a plateau or decline in function post-gene therapy (with a duration of 26 weeks or less) documented by 2 individual time points in the functions as follows: swallowing AND one additional function/ability (respiratory, motor function, other) per appropriate expectation.

Exclusion

Previous or current enrolment in investigational study prior to initiation of study treatment
Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information
Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide
Concomitant or previous use of an anti-myostatin agent
Participants requiring invasive ventilation or tracheostomy
Presence of feeding tube and an OrSAT score of 0
Hospitalization for pulmonary event within the last 2 months, or any planned hospitalization at the time of screening
Any major illness requiring hospitalization within 1 month before the screening examination or any febrile illness within 1 week prior to screening and up to first dose administration.

What this trial measures

  • Change from Baseline in the Raw Score of Bayley Scales of Infant and Toddler Development - Third Edition (BSID-III) Gross Motor Score at 72 Weeks of Risdiplam TreatmentBaseline, Week 72

    The BSID-III is a standardized assessment commonly used to evaluate developmental functioning of infants and young children between 1 month and 42 months of age. The gross motor scale measures the movement of the limbs and torso. Items assess static positioning (e.g., sitting, standing); dynamic movement, including locomotion and coordination; balance; and motor planning. The gross motor scale consists of 72 items scored at 0 (unable to perform) or 1 (criteria for item achieved). A higher raw score indicates improvement.