Actively Recruiting
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
Led by Hoffmann-La Roche · Updated on 2026-05-04
28
Participants Needed
16
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the effectiveness and safety of risdiplam as an early treatment for children under 2 years old diagnosed with spinal muscular atrophy (SMA) who have two SMN2 gene copies and have already received gene therapy with onasemnogene abeparvovec. This open-label, single-arm, multicenter clinical study focuses on pediatric participants to understand how risdiplam may help after gene therapy. The study is sponsored by Hoffmann-La Roche and is a Phase IV trial. Participants will take risdiplam orally once daily at the approved dose, which is adjusted based on their weight and age. The initial treatment period lasts 72 weeks, followed by a one-year extension period for a total study duration of approximately 2.5 years. This approach allows researchers to observe long-term effects and safety of risdiplam after prior gene therapy. During the study, children will be regularly assessed to track changes in their motor development using the Bayley Scales of Infant and Toddler Development. Researchers will monitor for any adverse events, serious side effects, and reasons for stopping treatment throughout the 120 weeks. The study includes genetic testing confirmation, clinical evaluations, and safety monitoring to understand risdiplam’s impact in this specific group.
CONDITIONS
Brief Title
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Child younger than 2 years of age at the time of informed consent
- Confirmed diagnosis of 5q-autosomal recessive SMA with genetic confirmation of homozygous deletion or compound heterozygosity causing loss of function of the SMN1 gene
- Confirmed presence of two SMN2 gene copies by laboratory testing
- Received onasemnogene abeparvovec gene therapy either before or after symptoms started
- Onasemnogene abeparvovec treatment was given at least 13 weeks and no more than 30 weeks before enrollment
- If treated with risdiplam before gene therapy, risdiplam treatment was no longer than 3 weeks and stopped 1 day before gene therapy
- No clinically significant decline in function since gene therapy as judged by the investigator
You will not qualify if you...
- Previous or current participation in another investigational study before starting this treatment
- Any unresolved laboratory abnormalities as per onasemnogene abeparvovec prescribing information
- Use of SMN2-targeting antisense oligonucleotides either now or previously
- Use of anti-myostatin agents either now or previously
- Requirement for invasive ventilation or tracheostomy
- Need for awake non-invasive ventilation or awake low oxygen levels (SaO2 <95%) with or without ventilator support
- Presence of feeding tube with an OrSAT score of 0
- Hospitalization for lung problems within the last 2 months or planned hospitalization at screening
- Major illness requiring hospitalization within 1 month before screening or any fever within 1 week before screening and first dose administration
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - 72 weeks
Participants receive risdiplam orally once daily, with the dose adapted for weight and age.
Duration - Approximately 1 year following the initial 72-week treatment period
Participants continue to receive risdiplam after the initial treatment period to further evaluate effectiveness and safety.
Trial Site Locations
Total: 16 locations
1
University of Arkansas for Medical Sciences
Little Rock, Arkansas, United States, 72103
Actively Recruiting
2
Children's Hospital of Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
3
University of Florida Pediatrics
Gainesville, Florida, United States, 32610
Actively Recruiting
4
Children's Healthcare of Atlanta Center for Advanced Pediatrics
Atlanta, Georgia, United States, 30329-2309
Actively Recruiting
5
Ann and Robert H. Lurie Children Hospital of Chicago
Chicago, Illinois, United States, 60611
Not Yet Recruiting
6
Helen DeVos Children's Hospital at Spectrum Health
Grand Rapids, Michigan, United States, 49503
Actively Recruiting
7
Columbia University Medical Center
New York, New York, United States, 10032
Actively Recruiting
8
Children'S Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
9
The University of Texas Southwestern Medical Center at Dallas
Dallas, Texas, United States, 75390
Actively Recruiting
10
Cook Children's Jane and John Justin Neurosciences Center
Fort Worth, Texas, United States, 76104
Actively Recruiting
11
Children's Hospital of the King's Daughter
Norfolk, Virginia, United States, 23510
Actively Recruiting
12
Charité - Universitätsmedizin Berlin SPZ Abteilung Neuropaediatrie
Berlin, Germany, 13353
Actively Recruiting
13
UKGM Standort Gießen
Giessen, Germany, 35392
Actively Recruiting
14
Uniwersyteckie Centrum Kliniczne
Uniwersyteckie Centrum Kliniczne, Poland, 80-952
Actively Recruiting
15
Instytut Pomnik Centrum Zdrowia Dziecka
Warsaw, Poland, 04-730
Actively Recruiting
16
Great Ormond Street Hospital For Children
London, United Kingdom, WC1N 3JH
Actively Recruiting
Research Team
R
Reference Study ID Number: BN44620 https://forpatients.roche.com/
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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