A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
- Registration Number
- NCT05861986
- Lead Sponsor
- Hoffmann-La Roche
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 28
- <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
- 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.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Risdiplam 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.
- Primary Outcome Measures
Name Time Method 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 Baseline, 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.
- Secondary Outcome Measures
Name Time Method Percentage of Participants With Serious Adverse Events Up to 120 weeks Percentage of Participants With Adverse Events Up to 120 weeks Percentage of Participants With Treatment Discontinuation Due to Adverse Events Up to 120 weeks
Trial Locations
- Locations (16)
University of Arkansas for Medical Sciences
🇺🇸Little Rock, Arkansas, United States
Children's Hospital of Colorado
🇺🇸Aurora, Colorado, United States
University of Florida Pediatrics
🇺🇸Gainesville, Florida, United States
Children's Healthcare of Atlanta Center for Advanced Pediatrics
🇺🇸Atlanta, Georgia, United States
Ann and Robert H. Lurie Children Hospital of Chicago
🇺🇸Chicago, Illinois, United States
Helen DeVos Children's Hospital at Spectrum Health
🇺🇸Grand Rapids, Michigan, United States
Columbia University Medical Center
🇺🇸New York, New York, United States
Children'S Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
The University of Texas Southwestern Medical Center at Dallas
🇺🇸Dallas, Texas, United States
Cook Children's Jane and John Justin Neurosciences Center
🇺🇸Fort Worth, Texas, United States
Scroll for more (6 remaining)University of Arkansas for Medical Sciences🇺🇸Little Rock, Arkansas, United States