A Study to Evaluate the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients with Spinal Muscular Atrophy After Gene Therapy

Phase 1

Conditions: Spinal Muscular Atrophy (SMA)
MedDRA version: 20.1Level: LLTClassification code: 10051203Term: Spinal muscular atrophy congenital Class: 10010331
MedDRA version: 20.1Level: PTClassification code: 10041582Term: Spinal muscular atrophy Class: 100000004850
MedDRA version: 20.0Level: LLTClassification code: 10079417Term: Spinal muscular atrophy infantile onset Class: 10010331
Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]

Registration Number: CTIS2023-504508-26-00

Lead Sponsor: F. Hoffmann-La Roche AG

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 41

Inclusion Criteria

?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) telomeric gene, ?Confirmed presence of two survival of motor neuron 2 (SMN2) centromeric gene copies as documented through laboratory testing, ?Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically (=3 months of symptoms), ?Has received onasemnogene abeparvovec for SMA no less than 3 months, but not more than 7 months, prior to enrollment, ?Parent or caregiver of patient willing to consider nasogastric, naso-jejunal, or gastrostomy tube placement during the study to maintain safe hydration, nutrition, and treatment delivery, as recommended by the investigator, ?Parent or caregiver of patient willing to consider the use of non-invasive ventilation during the study, as recommended by the investigator

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, ?Patients requiring invasive ventilation or tracheostomy and patients requiring awake non-invasive ventilation or with awake hypoxemia (SaO2 < 95%) with or without ventilator support, ?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, ?History of respiratory failure or severe pneumonia and pulmonary function has not fully recovered at the time of screening