Spinal Muscular Atrophy
Conditions
Keywords
Onasemnogene Abeparvovec
Brief 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. 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.
Interventions
None listed
Sponsors
Novartis Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 | Up to approximately 4 years and 5 months | 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. |
| Incidence of Serious Adverse Events and ADRs | Up to approximately 4 years and 5 months | Incidence based on the person-year method will be calculated. |
| Incidence of Serious Adverse Events and ADRs Corresponding to the Safety Specifications | Up to approximately 4 years and 5 months | Incidence based on the person-year method will be calculated. |
| 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
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline in Hammersmith Functional Motor Scale-Expanded (HFMSE) Score | Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | 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. |
| Change From Baseline in Revised Upper Limb Module (RULM) Score | Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | 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. |
| Change From Baseline in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score | Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | 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. |
| Change From Baseline in Clinical Global Impression-Severity (CGI-S) Score | Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | 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 |
| Number of Patients Categorized by Clinical Global Impression-Improvement (CGI-I) Score | 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | 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). |
| Number of Patients Achieving Each Developmental Milestone | Baseline, 6 months, 12 months, 18 months, 24 months, and every year thereafter, up to approximately 4 years and 5 months | Developmental milestones include: * Sitting without support * Hands-and-knees crawling * Standing with assistance * Walking with assistance * Standing alone * Walking alone |
| 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 | — |
Contacts
CONTACTNovartis Pharmaceuticals
STUDY_DIRECTORNovartis Pharmaceuticals
Novartis Pharmaceuticals
Outcome results
None listed