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

Recruitment Status
RECRUITING
(See Contacts and Locations)Verified July 2026 by Hoffmann-La Roche
Sponsor
Hoffmann-La Roche
Information Provided by (Responsible Party)
Hoffmann-La Roche
Clinicaltrials.gov Identifier
NCT05861986
Other Study ID Numbers:
BN44620
First Submitted
May 7, 2023
First Posted
May 16, 2023
Last Update Posted
August 3, 2026
Last Verified
July 2026

ClinicalTrials.gov processed this data on August 2026. Link to the current ClinicalTrials.gov record .

History of Changes

Study Details

Study Description

Condition or DiseaseIntervention/Treatment
Muscular Atrophy, Spinal
Drug: Risdiplam

Study Design

Study TypeInterventional
Actual Enrollment28 participants
Design AllocationN/A
Interventional ModelSingle Group Assignment
MaskingNone (Open Label)
Primary PurposeTreatment
Official TitleA 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
Study Start DateMay 29, 2024
Actual Primary Completion Date1yr 7mos from now
Actual Study Completion Date2yrs 7mos from now

Groups and Cohorts

Group/CohortIntervention/Treatment
Risdiplam
Participants will receive risdiplam orally once daily for 72 weeks (Treatment Period). The Treatment Period will be followed by a 1-year Treatment Extension Period for a total study duration of 120 weeks (approximately 2.5 years) for each participant enrolled.
Drug: Risdiplam
Participants will receive risdiplam orally at the currently approved dose. The dose should be adapted for weight and age.

Outcome Measures

Primary Outcome Measures
  1. 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
    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.
Secondary Outcome Measures
  1. Percentage of Participants With Adverse Events
  2. Percentage of Participants With Serious Adverse Events
  3. Percentage of Participants With Treatment Discontinuation Due to Adverse Events

Eligibility Criteria

Ages Eligible for Study(Child)
Sexes Eligible for StudyAll
Accepts Healthy VolunteersNo
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.

Contacts and Locations

Sponsors and CollaboratorsHoffmann-La Roche
Locations
University of Arkansas for Medical Sciences | Little Rock Arkansas, United States, 72103Children's Hospital of Colorado | Aurora Colorado, United States, 80045University of Florida Pediatrics | Gainesville Florida, United States, 32610Children's Healthcare of Atlanta Center for Advanced Pediatrics | Atlanta Georgia, United States, 30329-2309Ann and Robert H. Lurie Children Hospital of Chicago | Chicago Illinois, United States, 60611Helen DeVos Children's Hospital at Spectrum Health | Grand Rapids Michigan, United States, 49503Columbia University Medical Center | New York New York, United States, 10032Children'S Hospital of Philadelphia | Philadelphia Pennsylvania, United States, 19104The University of Texas Southwestern Medical Center at Dallas | Dallas Texas, United States, 75390Cook Children's Jane and John Justin Neurosciences Center | Fort Worth Texas, United States, 76104Children's Hospital of the King's Daughter | Norfolk Virginia, United States, 23510Charité - Universitätsmedizin Berlin SPZ Abteilung Neuropaediatrie | Berlin , Germany, 13353UKGM Standort Gießen | Giessen , Germany, 35392Uniwersyteckie Centrum Kliniczne | Uniwersyteckie Centrum Kliniczne , Poland, 80-952Instytut Pomnik Centrum Zdrowia Dziecka | Warsaw , Poland, 04-730Great Ormond Street Hospital For Children | London , United Kingdom, WC1N 3JH
Investigators
Study Director: Clinical Trials, Hoffmann-La Roche