An observational study in Spinal Muscular Atrophy, sponsored by Novartis Pharmaceuticals. Recruiting at 4 sites in Japan. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2026-10-22.
Sponsored by Novartis Pharmaceuticals (part of Novartis) · Observational
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.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
This study's planned enrollment of 80 is below the median of 139 across 114 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Novartis Pharmaceuticals is the lead sponsor of 2,718 studies on the registry; 221 are open to participants now.
Of its 585 completed or terminated interventional studies of FDA-regulated products, 438 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
SMA patients administered onasemnogene abeparvovec by intrathecal injection in Japan.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion criteria:
SMA patients treated with onasemnogene abeparvovec intrathecal injection in Japan.
Number of Patients With Serious Adverse Events and Adverse Drug Reactions (ADRs)
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Up to approximately 4 years and 5 months
Number of Patients by Time to Onset of Serious Adverse Events and ADRs
Time frame: 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
Time frame: Up to approximately 4 years and 5 months
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.
Time frame: 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.
Time frame: 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.
Time frame: 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
Time frame: 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).
Time frame: 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
Time frame: 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
Time frame: Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months
Plan to share: No
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Started Oct 2026 (actual). Primary completion is estimated for Mar 2031, 53 months after the start.
Of 58 observational studies under Muscular Atrophy, Spinal, half reached primary completion within 88 months of starting (the median), counting those still running; a quarter within 36. This study's planned 53 months is below that.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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