A Study of the Safety and Effectiveness of Onasemnogene Abeparvovec (Zolgensma) Intrathecal Injection in Spinal Muscular Atrophy Patients

Specified Use-Results Survey of Zolgensma Intrathecal Injection (Spinal Muscular Atrophy)

This study aims to assess the safety and effectiveness of onasemnogene abeparvovec intrathecal injection in spinal muscular atrophy (SMA) patients in clinical practice in Japan.

This is a non-interventional study and does not impose a therapy protocol, diagnostic/therapeutic procedure, or a visit schedule. Patients will be treated according to the Japan package insert. Data will be collected using a case registration form (CRF) completed by the investigator at each study site.

Study Overview

• Status: Not yet recruiting
• Conditions: Spinal Muscular Atrophy

• Study Type: Observational
• Enrollment (Estimated): 80

Contacts and Locations

• Study Contact: Name: Novartis Pharmaceuticals; Phone Number: +41613241111; Email: novartis.email@novartis.com
• Study Contact Backup: Name: Novartis Pharmaceuticals

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

SMA patients administered onasemnogene abeparvovec by intrathecal injection in Japan.

Description

Inclusion criteria:

• All patients treated with onasemnogene abeparvovec.

Exclusion criteria:

• Patients who have received onasemnogene abeparvovec for unapproved indications under the Clinical Trials Act or GCP (eg, investigator-initiated clinical trial).

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Onasemnogene Abeparvovec Intrathecal Group; SMA patients treated with onasemnogene abeparvovec intrathecal injection in Japan.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Patients With Serious Adverse Events and Adverse Drug Reactions (ADRs)		Up to approximately 4 years and 5 months
Number of Patients With Serious Adverse Events and ADRs Corresponding to the Safety Specifications	Safety specifications include hepatotoxicity, transient thrombocytopenia, thrombotic microangiopathy, cardiac adverse events, dorsal root ganglia toxicity, tumorigenicity due to chromosomal integration, and long-term monitoring of gene therapy.	Up to approximately 4 years and 5 months
Incidence of Serious Adverse Events and ADRs	Incidence based on the person-year method will be calculated.	Up to approximately 4 years and 5 months
Incidence of Serious Adverse Events and ADRs Corresponding to the Safety Specifications	Incidence based on the person-year method will be calculated.	Up to approximately 4 years and 5 months
Number of Patients by Time to Onset of Serious Adverse Events and ADRs		Up to approximately 4 years and 5 months
Number of Patients by Time to Onset of Serious Adverse Events and ADRs Corresponding to the Safety Specifications		Up to approximately 4 years and 5 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change From Baseline in Hammersmith Functional Motor Scale-Expanded (HFMSE) Score	The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.	Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Change From Baseline in Revised Upper Limb Module (RULM) Score	RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows: 0 - unable to perform the task; 1 - able to perform the task with some modification; 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.	Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Change From Baseline in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score	CHOP-INTEND is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.	Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Change From Baseline in Clinical Global Impression-Severity (CGI-S) Score	The CGI-S scale is a physician-rated measure used to assess the severity of a patient's illness. Severity of illness is assessed with consideration for the overall clinical experience of patients of the same age. The CGI-S scores range from: 0 = Not evaluated; 1 = Normal, not at all ill; 2 = Borderline normal and ill; 3 = Mildly ill; 4 = Moderately ill; 5 = Markedly ill; 6 = Severely ill; 7 = Among the most extremely ill	Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Number of Patients Categorized by Clinical Global Impression-Improvement (CGI-I) Score	The CGI-I scale is a physician-rated measure used to assess a patient's overall clinical status. The patient's overall clinical status is scored on a 7-point scale of the extent of change relative to before treatment initiation as follows: 1 = Very much improved; 2 = Much improved; 3 = Minimally improved; 4 = No change; 5 = Minimally worse; 6 = Much worse; 7 = Very much worse Number of patients and their 95% confidence intervals (CIs) will be calculated for two categories: improved (CGI-I score: 1 to 3) and unchanged or worsened (CGI-I score: 4 to 7).	6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Number of Patients Achieving Each Developmental Milestone	Developmental milestones include: Sitting without support; Hands-and-knees crawling; Standing with assistance; Walking with assistance; Standing alone; Walking alone	Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Number of Patients Maintaining Each Developmental Milestone		Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months

Collaborators and Investigators

• Sponsor: Novartis Pharmaceuticals
• Investigators: Study Director: Novartis Pharmaceuticals, Novartis Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Estimated): October 30, 2026
• Primary Completion (Estimated): March 31, 2031
• Study Completion (Estimated): March 31, 2031

Study Registration Dates

• First Submitted: August 11, 2026
• First Submitted That Met QC Criteria: August 11, 2026
• First Posted (Actual): August 17, 2026

Study Record Updates

• Last Update Posted (Actual): August 17, 2026
• Last Update Submitted That Met QC Criteria: August 11, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Onasemnogene Abeparvovec
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal
• Other Study ID Numbers: COAV101B1401

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO