Table 4.
Description of the post-marketing clinical studies of the orphan drugs marketed for SMA treatment as identified in clinicaltrials.gov and in the EU PAS register on the 4 January 2023.
| NCT or EU PAS Number | Status | Study Drug | Age | Phase | Study Size | Study Type | Study Design | Primary Purpose | Funded by | Country | Included in the Risk Management Plan |
|---|---|---|---|---|---|---|---|---|---|---|---|
| clinicaltrials.gov | |||||||||||
| NCT01494701 | Completed | Nusinersen | Child | 1 | 28 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States | No |
| NCT01703988 | Completed | Nusinersen | Child | 1/2 | 34 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States | No |
| NCT01780246 | Completed | Nusinersen | Child | 1 | 18 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States | No |
| NCT01839656 | Completed | Nusinersen | Child | 2 | 21 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States, Canada | No |
| NCT02052791 | Completed | Nusinersen | Child, Adult, Older Adult | 1 | 47 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States | No |
| NCT02292537 | Completed | Nusinersen | Child | 3 | 126 | Interventional | Quadruple-blinded, randomized clinical trial | Treatment | Industry | United States, Canada, France, Germany, Hong Kong, Italy, Japan, Republic of Korea, Spain, and Sweden | No |
| NCT02386553 | Active, not recruiting | Nusinersen | Child | 2 | 25 | Interventional | Single-group, open-label clinical trial | N.R. | Industry | United States, Australia, Germany, Italy, Qatar, Taiwan, and Turkey | Yes |
| NCT02462759 | Terminated | Nusinersen | Child, Adult, Older Adult | 2 | 21 | Interventional | Quadruple-blinded, randomized clinical trial | Treatment | Industry | United States, Germany | No |
| NCT02594124 | Active, not recruiting | Nusinersen | Child, Adult, Older Adult | 3 | 292 | Interventional | Triple-blinded, non-randomized clinical trial | Treatment | Industry | United States, Australia, Canada, France, Germany, Hong Kong, Italy, Japan, Spain, Sweden, Turkey, and United Kingdom | Yes |
| NCT04050852 | Withdrawn | Nusinersen | Child, Adult | 1 | 0 | Interventional | Single-group, open-label clinical trial | Treatment | University | United States | No |
| NCT04089566 | Recruiting | Nusinersen | Child, Adult, Older Adult | 2/3 | 145 | Interventional | Double-blinded, randomized clinical trial | Treatment | Industry | United States, Brazil, Canada, Chile, Colombia, Estonia, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Japan, and Republic of Korea | No |
| NCT04159987 | Recruiting | Nusinersen | Adult, Older Adult | N.A. | 20 | Interventional | Single-group, open-label clinical trial | Treatment | University | France | No |
| NCT04488133 | Recruiting | Nusinersen | Child | 4 | 60 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Germany, Italy, Japan, and Spain | No |
| NCT04576494 | Recruiting | Nusinersen | Adult, Older Adult | N.A. | 24 | Interventional | Single-group, open-label clinical trial | Treatment | University | France | No |
| NCT04674618 | Recruiting | Nusinersen | Adult, Older Adult | N.A. | 58 | Interventional | Open-label, randomized clinical trial | Treatment | University | Italy | No |
| NCT04729907 | Recruiting | Nusinersen | Child, Adult, Older Adult | 3 | 172 | Interventional | Quadruple-blinded, non-randomized clinical trial | Treatment | Industry | United States, Brazil, Canada, Chile, Colombia, Estonia, Germany, Hungary, Japan, Mexico, Russia, Saudi Arabia, Spain, and Taiwan | No |
| NCT05067790 | Recruiting | Nusinersen | Child, Adult | 3 | 135 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Belgium, Germany, Italy, Poland, and Spain | No |
| NCT02865109 | Unknown status | Nusinersen | Child, Adult, Older Adult | N.A. | N.A. | Expanded Access | N.R. | Treatment | Industry | Colombia, New Zealand, and Turkey | No |
| NCT03709784 | Active, not recruiting | Nusinersen | Adult, Older Adult | N.A. | 48 | Observational | Prospective cohort study | N.R. | University | United States, Canada | No |
| NCT03878030 | Active, not recruiting | Nusinersen | Adult | N.A. | 12 | Observational | Prospective cohort study | N.R. | Community-based organization | United States | No |
| NCT04587492 | Completed | Nusinersen | Child, Adult | N.A. | 35 | Observational | Prospective cohort study | N.R. | University | Slovenia | No |
| NCT04591678 | Completed | Nusinersen | Adult | N.A. | 15 | Observational | Prospective cohort study | N.R. | Industry | United States | No |
| NCT04602195 | Recruiting | Nusinersen | Child | N.A. | 60 | Observational | Prospective observational study | N.R. | University | France | No |
| NCT04644393 | Unknown status | Nusinersen | Child | N.A. | 40 | Observational | Retrospective observational study | N.R. | University | France | No |
| NCT04419233 | Active, not recruiting | Nusinersen | Child, Adult, Older Adult | N.A. | 50 | Observational | Case-only study | N.R. | Industry | China | No |
| NCT04317794 | Recruiting | Nusinersen | Child, Adult, Older Adult | N.A. | 145 | Observational | Case-only study | N.R. | Industry | Republic of Korea | No |
| NCT04404764 | Completed | Nusinersen | Child, Adult, Older Adult | N.A. | 155 | Observational | Cross-sectional study | N.R. | University | Brazil | No |
| NCT05187260 | Recruiting | Nusinersen | Child, Adult | N.A. | 1000 | Observational | Prospective cohort study | N.R. | University | China | No |
| NCT05644899 | Not yet recruiting | Nusinersen | Adult, Older Adult | N.A. | 51 | Observational | Retrospective cohort study | N.R. | University | Italy | No |
| NCT04825119 | Recruiting | Nusinersen | Child, Adult, Older Adult | N.A. | 110 | Observational | Prospective cohort study | N.R. | University | Slovenia | No |
| NCT04139343 | Recruiting | Nusinersen | Child, Adult, Older Adult | N.A. | 140 | Observational | Prospective case–control study | N.R. | University | United States | No |
| NCT05042921 | Not yet recruiting | Nusinersen | Child, Adult | N.A. | 300 | Observational | Prospective cohort study | N.R. | Industry | N.R. | No |
| NCT05291962 | Completed | Nusinersen | Child, Adult | N.A. | 14 | Observational | Retrospective observational study | N.R. | University | Turkey | No |
| NCT02122952 | Completed | Onasemnogene abeparvovec | Child | 1 | 15 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States | No |
| NCT03381729 | Completed | Onasemnogene abeparvovec | Child | 1 | 32 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States | No |
| NCT03461289 | Completed | Onasemnogene abeparvovec | Child | 3 | 33 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | Belgium, France, Italy, and United Kingdom | No |
| NCT03505099 | Completed | Onasemnogene abeparvovec | Child | 3 | 30 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Australia, Belgium, Canada, Japan, and United Kingdom | No |
| NCT03837184 | Completed | Onasemnogene abeparvovec | Child | 3 | 2 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | Japan, Republic of Korea, and Taiwan | No |
| NCT04042025 | Active, not recruiting | Onasemnogene abeparvovec | Child, Adult, Older Adult | 3 | 85 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Australia, Belgium, Canada France, Italy, Japan, United Kingdom | Yes |
| NCT04851873 | Recruiting | Onasemnogene abeparvovec | Child | 3 | 24 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Australia, Belgium, Canada, France, Italy, Portugal, Switzerland, Taiwan, United Kingdom | No |
| NCT05073133 | Active, not recruiting | Onasemnogene abeparvovec | Child | 4 | 16 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | Argentina, Brazil | No |
| NCT05089656 | Recruiting | Onasemnogene abeparvovec | Child | 3 | 125 | Interventional | Quadruple-blinded, randomized clinical trial | Treatment | Industry | United States, China, Denmark, India, Malaysia, Mexico, Singapore, South Africa, Taiwan, Thailand, and Vietnam | No |
| NCT05335876 | Not yet recruiting | Onasemnogene abeparvovec | Child, Adult, Older Adult | 3 | 260 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | N.R. | No |
| NCT05386680 | Not yet recruiting | Onasemnogene abeparvovec | Child | 3 | 28 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | N.R. | No |
| NCT03955679 | Unknown status | Onasemnogene abeparvovec | Child, Adult, Older Adult | N.A. | N.A. | Expanded access | N.R. | N.R. | Industry | United States | No |
| NCT03421977 | Active, not recruiting | Onasemnogene abeparvovec | Child, Adult, Older Adult | N.A. | 13 | Observational | Prospective observational study | N.R. | Industry | United States | Yes |
| NCT04174157 | Recruiting | Onasemnogene abeparvovec | Child, Adult, Older Adult | N.A. | 500 | Observational | Cross-sectional study | N.R. | Industry | United States | Yes |
| NCT03779334 | Active, not recruiting | Risdiplam | Child | 2 | 25 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Australia, Brazil, China, Poland, Russia, and Taiwan | Yes |
| NCT03920865 | Completed | Risdiplam | Adult, Older Adult | 1 | 26 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States | No |
| NCT03988907 | Completed | Risdiplam | Adult | 1 | 35 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States | No |
| NCT04718181 | Recruiting | Risdiplam | Adult | 1 | 268 | Interventional | Open-label, randomized clinical trial | N.R. | Industry | United States | No |
| NCT05522361 | Not yet recruiting | Risdiplam | Child, Adult | 4 | 10 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States | No |
| NCT05115110 | Recruiting | Risdiplam | Child | 2/3 | 180 | Interventional | Double-blinded, randomized clinical trial | Treatment | Industry | Belgium, Italy, The Netherlands, Poland, and United Kingdom | No |
| NCT05232929 | Recruiting | Risdiplam | Child, Adult, Older Adult | 4 | 500 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States | No |
| NCT02633709 | Completed | Risdiplam | Adult | 1 | 33 | Interventional | Double-blinded, randomized clinical trial | Treatment | Industry | The Netherlands | No |
| NCT02908685 | Active, not recruiting | Risdiplam | Child, Adult | 2/3 | 231 | Interventional | Double-blinded, randomized clinical trial | Treatment | Industry | United States, Belgium, Brazil, Canada, China, Croatia, France, Germany, Italy, and Japan | Yes |
| NCT02913482 | Active, not recruiting | Risdiplam | Child | 2/3 | 62 | Interventional | Non-randomized, open-label clinical trial | Treatment | Industry | United States, Belgium, Brazil, China, Croatia, France, Italy, Japan Poland, Saudi Arabia, Spain, and Switzerland | Yes |
| NCT03032172 | Active, not recruiting | Risdiplam | Child, Adult | 2 | 174 | Interventional | Single-group, open-label clinical trial | Treatment | Industry | United States, Belgium, France, Germany, Italy, The Netherlands, Switzerland, and United Kingdom | Yes |
| NCT04256265 | Unknown status | Risdiplam | Child, Adult, Older Adult | N.A. | N.A. | Expanded access | N.R. | N.R. | Industry | United States | No |
| NCT05219487 | Recruiting | Risdiplam | Adult, Older Adult | N.A. | 10 | Observational | Prospective observational study | N.R. | Industry | United States | No |
| NCT04177134 | Recruiting | Nusinersen, onasemnogene abeparvovec, risdiplam | Child, Adult, Older Adult | N.A. | 1000 | Observational | Cohort study | N.R. | University | France | No |
| NCT05518773 | Recruiting | Nusinersen, risdiplam | Child, Adult | N.A. | 34 | Observational | Cross-sectional study | N.R. | Industry | United States | No |
| NCT03339830 | Completed | N.R. | Child, Adult, Older Adult | N.A. | 100 | Observational | Prospective cohort study | N.R. | Research center | France | No |
| NCT05475691 | Recruiting | N.R. | Child, Adult, Older Adult | N.A. | 300 | Observational | Prospective cohort study | N.R. | Industry | Argentina, Brazil, Mexico, and Uruguay | No |
| NCT05618379 | Not yet recruiting | N.R. | Adult, Older Adult | N.A. | 200 | Observational | Prospective observational study | N.R. | Industry | N.R. | No |
| EU PAS register | |||||||||||
| EUPAS32033 | Planned | Nusinersen | Child, Adult, Older Adult | N.A. | 300 | Observational | Intensive monitoring scheme | Biomarker discovery | Industry | Germany | No |
| EUPAS41853 | Ongoing | Onasemnogene abeparvovec | Child, Adult | N.A. | 500 | Observational | Observational registry | Effectiveness evaluation | Industry | Argentina, Brazil, Chile, Greece, Ireland, Japan, Republic of Korea, Poland, Portugal, Romania, Russia, Taiwan, and United States | No |
| EUPAS47916 | Ongoing | Risdiplam | Child, Adult, Older Adult | N.A. | 600 | Observational | Cohort study | Effectiveness evaluation | Industry | Austria, Germany, Sweden, and Switzerland | No |
| EUPAS47679 | Planned | Risdiplam | Adolescent, Adult | N.A. | 46 | Observational | Cohort study | Safety evaluation | Industry | Germany, Italy, and United States | Yes |
Abbreviations: N.A. = Not applicable; N.R. = Not reported.