A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function 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 for young children with spinal muscular atrophy (SMA). Specifically, it focuses on children under 2 years old who have already received a gene therapy called onasemnogene abeparvovec but are experiencing a plateau or decline in their abilities, such as swallowing or other motor functions. The goal is to see if risdiplam can help improve their condition after gene therapy.

To participate in this study, children must be less than 2 years old, have a confirmed diagnosis of SMA, and have two copies of a specific gene related to the disease. They should have received the previous gene therapy at least three months before joining the trial and have shown a drop or stabilization in their abilities for no longer than six months. The study is currently recruiting participants, and those who join can expect close monitoring and support throughout the trial to assess how well the treatment works and if there are any side effects.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • \<2 years of age at the time of informed consent
• • Confirmed diagnosis of 5q-autosomal recessive SMA
• • Confirmed presence of two SMN2 gene copies
• • Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically
• • Has received onasemnogene abeparvovec for SMA no less than 3 months prior to enrollment
• • In the opinion of the investigator, has demonstrated a plateau or decline in function post-gene therapy (with a duration of 6 months or less) documented by 2 individual time points in the functions as follows: swallowing AND one additional function/ability (respiratory, motor function, other) per appropriate expectation.
• Exclusion Criteria:
• • Treatment with investigational therapy prior to initiation of study treatment
• • Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information
• • Concomitant or previous administration of a SMN2-targeting antisense oligonucleotide or SMN2 splicing modifier either in a clinical study or as part of medical care
• • Requiring invasive ventilation or tracheostomy
• • 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.