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

Launched by HOFFMANN-LA ROCHE · May 8, 2023

Keywords

ClinConnect Summary

This clinical trial is studying the effectiveness and safety of a medication called risdiplam in young children with spinal muscular atrophy (SMA) who have already received a gene therapy called onasemnogene abeparvovec. The focus is on children under 2 years old who have a specific genetic profile, including having two copies of the SMN2 gene. The trial aims to see if giving risdiplam early can help these children maintain or improve their muscle function.

To be eligible for this study, children must be less than 2 years old, have a confirmed diagnosis of SMA, and have received the gene therapy within the last 3 to 7 months without significant decline in their health. Participants will have regular check-ups to monitor their progress and ensure their safety throughout the study. This trial is actively recruiting participants, and it’s important for families to know that not every child will meet the criteria, especially if they have certain health issues or have received other specific treatments.

Gender

ALL

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.