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One-Time gene therapy helps babies with fatal muscle disease sit independently

NCT ID NCT03461289

Disease control Sponsor: Novartis Gene Therapies Source: ClinicalTrials.gov ↗

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested a one-time gene replacement therapy in 33 infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The treatment aims to replace the missing SMN1 gene to improve muscle function. Key results showed that many babies could sit independently for at least 10 seconds, and most survived without needing permanent breathing support by 14 months of age.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

33 people

The number who actually took part.

Started

Aug 2018

Finished

Sep 2020

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Up to 6 months

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Patients with SMA Type 1 as determined by diagnosis of SMA based on gene mutation analysis with biallelic SMN1 mutations (deletion or point mutations) and one or two copies of SMN2 \[inclusive of the known SMN2 gene modifier mutation (c.859G\>C)\] * Patients must be \< 6 months (\< 180 days) of age at the time of onasemnogene abeparvovec-xioi infusion * Patients must have a swallowing evaluation test performed prior to administration of gene replacement therapy Exclusion Criteria: * Previous, planned or expected scoliosis repair surgery/procedure prior to 18 months of age * Use of invasive ventilatory support (tracheotomy with positive pressure) or pulse oximetry \< 95% saturation at screening * Use or requirement of non-invasive ventilatory support for 12 or more hours daily in the two weeks prior to dosing * Patient with signs of aspiration based on a swallowing test or whose weight-for-age falls below the 3rd percentile based on World Health Organization (WHO) Child Growth Standards and unwilling to use an alternative method to oral feeding * Participation in recent SMA treatment clinical trial (with the exception of observational cohort studies or non-interventional studies) or receipt of an investigational or commercial compound, product or therapy administered with the intent to treat SMA (eg, nusinersen, valproic acid,) at any time prior to screening for this trial.

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Conditions

The condition(s) this trial relates to.

proximal spinal muscular atrophy spinal muscular atrophy, type 1

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

SMA

Contacts and locations

Locations

  • Carlo Besta Neurological Research Institute

    Milan, Italy

  • Great Ormond Street Hospital for Children

    London, United Kingdom

  • Hôpital Armand Trousseau

    Paris, France

  • Istituto Gianninia Gaslini

    Genova, Italy

  • Neuropédiatrie - Centre de Référence des Maladies Neuromusculaires

    Liège, Belgium

  • Policlinico "G. Martino"

    Messina, Italy

  • Policlinico Gemelli

    Rome, Italy

  • The John Walton Muscular Dystrophy Research Centre MRC Centre for Neuromuscular Diseases at Newcastle

    Newcastle upon Tyne, United Kingdom

  • University Hospital Ghent Neuromuscular reference center

    Ghent, Belgium

  • University of Milan

    Milan, Italy

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