Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (OFELIA)

NCTID	NCT05073133 (View at clinicaltrials.gov)
Description	This was a phase IV Open-label, single-arm, single-dose, multicenter study, to evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with SMA with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene ≤ 24 months and weighing ≤ 17 kg, over a 18-month period post infusion. (Show More)
Development Status	Approved
Indication	Spinal Muscular Atrophy
Disease Ontology Term	DOID:13137
Compound Name	ZOLGENSMA
Compound Alias	onasemnogene abeparvovec
Sponsor	Novartis Pharmaceuticals
Funder Type	Industry
Recruitment Status	Completed
Enrollment Count	16
Results Posted	View Results

Therapy Information

Target Gene/Variant	SMN1
Therapy Type	Gene transfer
Therapy Route	In-vivo
Mechanism of Action	Functional gene replacement
Route of Administration	Intravenous
Drug Product Type	Viral vector
Target Tissue/Cell
Delivery System	Viral transduction
Vector Type	AAV9
Editor Type	none
Dose 1	1.1E14 vg/kg
Dose 2
Dose 3
Dose 4
Dose 5

Study Record Dates

Current Stage	Phase4
Submit Date	2021-09-20
Completion Date	2023-08-08
Last Update	2024-10-09

Participation Criteria

Eligible Age	<=24 Months
Standard Ages	Child
Sexes Eligible for Study	ALL

Locations

No.of Trial Sites	5
Locations	Argentina,Brazil

Regulatory Information

Has US IND	False
FDA Designations	Breakthrough Therapy, Fast Track, Orphan Drug Designation, Rare Pediatric Disease Designation
Recent Updates	FDA approved 5/24/19, price/treatment $2.1M

Resources/Links

Clinical Publications

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort
Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy
Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy
Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes
Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec
(Abstract) Long-term Safety of Onasemnogene Abeparvovec for Patients with Spinal Muscular Atrophy: Real-world Findings from the RESTORE Registry - MDA 2025
(Abstract) Outcomes and need for supplemental therapy after gene therapy in patients with spinal muscular atrophy type 1 identified by newborn screen - MDA 2025

Preclinical Publications

Protocol

FDA Approval Documents