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Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1 | Clinical Trials | Clareo Health

COMPLETEDPHASE3

Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1

Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion

NCT03306277•Novartis Gene Therapies

View on ClinicalTrials.gov

Summary

Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.

Detailed Description

Phase 3, open-label, single-arm, single-dose, study of onasemnogene abeparvovec-xioi (gene replacement therapy) in participants with spinal muscular atrophy (SMA) Type 1 who meet enrollment criteria and are genetically defined by nonfunctional survival motor neuron 1 gene (SMN1) with 1 or 2 copies of survival motor neuron 2 gene (SMN2). Fifteen (15) participants \< 6 months (\< 180 days) of age at the time of gene replacement therapy (Day 1) will be enrolled.

Eligibility

Age

0 - 0 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•Participants with SMA Type 1 as determined by the following features: a. Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 1 or 2 copies of SMN2 (inclusive of the known SMN2 gene modifier mutation (c.859G\>C))2
•The first 3 participants enrolled must meet the criteria for the Intent-To-Treat Population
•Participants must be \< 6 months (\< 180 days) of age at the time of onasemnogene abeparvovec-xioi infusion
•Participants must have a swallowing evaluation test performed prior to administration of gene replacement therapy
•Up-to-date on childhood vaccinations. Seasonal vaccinations that include palivizumab prophylaxis (also known as Synagis) to prevent respiratory syncytial virus (RSV) infections are also recommended in accordance with American Academy of Pediatrics
•Parent(s)/legal guardian(s) willing and able to complete the informed consent process and comply with study procedures and visit schedule

Exclusion Criteria

•Previous, planned or expected scoliosis repair surgery/procedure during the study assessment period
•Pulse oximetry \< 96% saturation at screening while the participant is awake or asleep without any supplemental oxygen or respiratory support, or for altitudes \> 1000 m, oxygen saturation \< 92% awake or asleep without any supplemental oxygen or respiratory support Pulse oximetry saturation may decrease to \< 96% after screening provided that the saturation does not decrease by ≥ 4 percentage points
•Tracheostomy or current use or requirement of non-invasive ventilatory support averaging ≥ 6 hours daily over the 7 days prior to the screening visit; or ≥ 6 hours/day on average during the screening period or requiring ventilatory support while awake over the 7 days prior to screening or at any point during the screening period prior to dosing
•Participants with signs of aspiration/inability to tolerate non-thickened- liquids based on a formal swallowing test performed as part of screening. Participants with a gastrostomy tube who pass the swallowing test will be allowed to enroll in the study
•Participants whose weight-for-age is below the third percentile based on World Health Organization (WHO) Child Growth Standards
•Active viral infection (includes human immunodeficiency virus \[HIV\] or positive serology for hepatitis B or C, or Zika virus)
•Serious non-respiratory tract illness requiring systemic treatment and/or hospitalization within 2 weeks prior to screening
•Upper or lower respiratory infection requiring medical attention, medical intervention, or increase in supportive care of any manner within 4 weeks prior to screening
•Severe non-pulmonary/respiratory tract infection within 4 weeks before administration of gene replacement therapy or concomitant illness that creates unnecessary risks for gene replacement therapy such as: a. Major renal or hepatic impairment b. Known seizure disorder c. Diabetes mellitus d. Idiopathic hypocalcuria e. Symptomatic cardiomyopathy
•Known allergy or hypersensitivity to prednisolone or other glucocorticosteroids or their excipients
+9 more criteria

Locations (16)

David Geffen School of Medicine at UCLA

Los Angeles, California, United States

Stanford University

Stanford, California, United States

Children's Hospital Colorado

Aurora, Colorado, United States

Nemours Children's Hospital

Orlando, Florida, United States

Ann and Robert H Lurie Children's Hospital

Chicago, Illinois, United States

Johns Hopkins Pediatric Neurology

Baltimore, Maryland, United States

Boston Children's Hospital

Boston, Massachusetts, United States

Washington Unviersity School of Medicine

St Louis, Missouri, United States

Columbia University

New York, New York, United States

Duke University

Durham, North Carolina, United States

Key Dates

Start Date

October 24, 2017

Primary Completion Date

November 12, 2019

Completion Date

November 12, 2019

Last Updated

January 26, 2026

Enrollment

ACTUAL participants

Conditions

SMA - Spinal Muscular AtrophyGene Therapy

Interventions

Onasemnogene Abeparvovec-xioi

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: January 26, 2026Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1

Inclusion Criteria

Exclusion Criteria

Needs Assessment of Knowledge, Beliefs, and Attitudes of Patients With Hemophilia B About Gene Therapy

Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors

An Expanded Clinical Study Evaluating the AAV2-RPE65 Gene Therapy(LX101) in Patients With LCA