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A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy

RecruitingPhase 4

A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene Therapy

Who can join

3 Months – 24 Months · All sexes

Full eligibility criteria
Inclusion Criteria:

* \<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, but not more than months 30 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
* Has, in the opinion of the investigator, not experienced clinically significant decline in function from the time of onasemnogene abeparvovec administration

Exclusion Criteria:

* 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
* Participants requiring awake non-invasive ventilation or with awake hypoxemia (Arterial Oxygen Saturation \[SaO2\] \<95%) with or without ventilator support
* 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.

About the study

This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered as an early intervention in pediatric participants with spinal muscular atrophy (SMA) and 2 SMN2 copies who have previously received onasemnogene abeparvovec. Participants are children \< 2 years of age genetically diagnosed with SMA.

What is being tested

Sponsor: Hoffmann-La Roche · Participants: 28 · Started: May 30, 2024

Contact the study team

Official record on ClinicalTrials.gov — NCT05861986

Locations in the U.S.

ArkansasUniversity of Arkansas for Medical Sciences, Little Rock
ColoradoChildren's Hospital of Colorado, Aurora
FloridaUniversity of Florida Pediatrics, Gainesville
GeorgiaChildren's Healthcare of Atlanta Center for Advanced Pediatrics, Atlanta
IllinoisAnn and Robert H. Lurie Children Hospital of Chicago, Chicago
MichiganHelen DeVos Children's Hospital at Spectrum Health, Grand Rapids
New YorkColumbia University Medical Center, New York
PennsylvaniaChildren'S Hospital of Philadelphia, Philadelphia
TexasThe University of Texas Southwestern Medical Center at Dallas, Dallas
Cook Children's Jane and John Justin Neurosciences Center, Fort Worth

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.