Table 1.
FSHD therapeutic development
| Therapeutic | Mechanism(s) of action | Tested in patients? | References |
|---|---|---|---|
| Anti-inflammatory | Immunosuppression | Yes | (101,102) |
| Inhibit pathologic processes downstream of DUX4 | |||
| Antioxidant | Prevent oxidative stress | Yes | (103–106) |
| Inhibit pathologic processes downstream of DUX4 | |||
| Antisense RNA | Enhance D4Z4 repression | No | (19,39,76,77,94–96,107,108) |
| Inhibit DUX4 expression | |||
| Inhibit pathologic processes downstream of DUX4 | |||
| BET bromodomain inhibitor | Enhance D4Z4 repression | No | (97) |
| Inhibit DUX4 expression | |||
| Beta-2 adrenergic agonist | Increase muscle strength/mass | Yes | (97,109–111) |
| Enhance D4Z4 repression | |||
| Inhibit DUX4 expression | |||
| Calcium channel blocker | Restore calcium dysregulation | Yes | (112,113) |
| Inhibit pathologic processes downstream of DUX4 | |||
| Exercise | Increase muscle strength/mass | Yes | (114–116) |
| GSK3β inhibitor | Enhance D4Z4 repression | No | (40) |
| Inhibit DUX4 expression | |||
| Myostatin inhibitor | Increase muscle strength/mass | Yes | (117,118) |
| Steroid | Increase muscle strength/mass | Yes | (119) |
| Tissue transplantation | Enhance muscle regeneration | Yes | (120,121) |
| Block DUX4 spreading | |||
| Tyrosine kinase inhibitor | Enhance muscle regeneration | No | (98) |
| Inhibit pathologic processes downstream of DUX4 | |||
| Unknown | Enhance D4Z4 repression | No | (77,99) |
| Inhibit DUX4 expression | |||
| Block DUX4 activity | |||
| Block DUX4 spreading | |||
| Inhibit pathologic processes downstream of DUX4 |