Spinal Muscular AtrophyNCT07767890
A Study of the Safety and Effectiveness of Onasemnogene Abeparvovec (Zolgensma) Intrathecal Injection in Spinal Muscular Atrophy Patients
An observational study of Spinal Muscular Atrophy, run by Novartis Pharmaceuticals at 4 sites in Japan.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Spinal Muscular Atrophy
- Type of treatment
- Injection or infusion
- How many people
- 80 participants
- Where
- 4 sitesJapan
- Study dates
- 7 Oct 2026to 31 Mar 2031
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: SMA patients administered onasemnogene abeparvovec by intrathecal injection in Japan.
Who may be able to join
- All patients treated with onasemnogene abeparvovec.
Who cannot join
- Patients who have received onasemnogene abeparvovec for unapproved indications under the Clinical Trials Act or GCP (eg, investigator-initiated clinical trial).
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Novartis Pharmaceuticals contact
Japan4 sites, 4 recruiting
- Recruiting
Novartis Investigative Site
Fukuoka, Fukuoka, 8140180
- Recruiting
Novartis Investigative Site
Kodaira, Tokyo, 1878551
- Recruiting
Novartis Investigative Site
Kyoto, Kyoto, 6028566
- Recruiting
Novartis Investigative Site
Toyoake, Aichi-ken, 4701192
About this study
Official title: 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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Onasemnogene Abeparvovec
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Onasemnogene Abeparvovec Intrathecal Group | SMA patients treated with onasemnogene abeparvovec intrathecal injection in Japan. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Patients With Serious Adverse Events and Adverse Drug Reactions (ADRs)
Measured: 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/peripheral sensory neuropathy, tumorigenicity due to chromosomal integration, and long-term monitoring of gene therapy.
Measured: 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.
Measured: 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.
Measured: Up to approximately 4 years and 5 months
Number of Patients by Time to Onset of Serious Adverse Events and ADRs
Measured: 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
Measured: Up to approximately 4 years and 5 months
Secondary outcomes (7)
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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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).
Measured: 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
Measured: 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
Measured: Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2026
- Study start7 Oct 2026
- Primary completion31 Mar 2031 (estimated)
- Study completion31 Mar 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Novartis Pharmaceuticals, Study director, Novartis Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07767890
- Sponsor's protocol ID
- COAV101B1401
- Status last verified
- Oct 2026
- First submitted
- 11 Aug 2026
- Last updated
- 22 Oct 2026
- Results posted
- No
- Individual data sharing
- No