SMA has become a model for neurological drug development. NfL's dramatic response to nusinersen has informed biomarker strategies across ALS, FTD, and other motor neuron diseases. Gene therapy combination approaches and next-generation ASOs are in active Phase II trials. View full research signals →
Primary pharmacodynamic biomarker in SMA trials. Dramatic reduction after nusinersen treatment — one of the clearest drug-biomarker responses in neurodegeneration.
Direct target of all approved SMA therapies. Measured as pharmacodynamic marker for nusinersen, risdiplam, and onasemnogene abeparvovec (OA). Increase confirms mechanism of action.
Heavy chain neurofilament. Marker of axonal degeneration in lower motor neurons. Complements NfL as a disease activity marker in older SMA patients.
Marker of muscle degeneration secondary to motor neuron loss. Useful as a progression marker in ambulatory SMA patients where NfL may plateau.
| NCT ID | Drug / Intervention | Phase | Status | Sponsor |
|---|---|---|---|---|
| NCT02386553 | Nusinersen (ASO — SMN2 splicing) | Phase III | Active | Biogen |
| NCT03032172 | Risdiplam (oral SMN2 modifier) | Phase III | Active | Roche |
| NCT03461289 | OA-101 (AAV9 gene therapy) | Phase II | Recruiting | Novartis |
Phase 1 primary cohort + monitored diseases