Table VI.
Update of therapeutic trials in humans.
| Therapeutic option | Mechanism | LGMD form (ref.) | Comment |
|---|---|---|---|
| Gene therapy (rAAV) | I.M. Intact gene transfer | LGMD2D (85) | Application on larger and more functional muscle is required Intra-arterial delivery to whole-body muscles is warranted The study represents histological but not functional improvement |
| Rituximab (I.V) (monoclonal AB) | Against CD20-positive B cells 375 mg/m2/week (4 doses) | Miyoshi M (168) | Small number of patients, female responsiveness is requested Muscle adaptation to specific exercise should be considered Effect of treatment on quality of life is doubtful |
| Dantrolene (25 mg/day) | Ca2+ ion blocker in ER (ryanodine receptor binding) | Miyoshi M (169) | Query effect on weakness Hepatopathy side effect in up to 91% |
| Vitamin D3 (1/week for 1 year) | MEK/ERK pathway D3 receptor to DYSF promoter |
DYSF carriers (170) | The study represents cohort of asymptomatic carriers |
| Deflazacort | Steroids (1 mg/kg/day) | DYSF-opathy (171) | Worsening of muscle strength |
| LGMD2D (172) | Mildly symptomatic female patient | ||
| Prednisone | Steroids (1–2 mg/kg/day) (0.35 mg/kg/day) | LGMD2M (30) | Partial responsiveness, multiple fractures and susceptibility to infections |
| LGMD2I (173) | Growth arrest, vertebral fractures and susceptibility to infection | ||
| Creatine MH | Helps to supply energy | Sarcoglycans (174) | Mild improvement (3%) |
| MYO-029 | Neutralizing AB to myostatin | MD (167) | No improvements at end point |
| CoQ10 + lisinopril | Vitamin-like+ Ca2+ blocker | LGMD | Recruiting |
LGMD, limb-girdle muscular dystrophies; AB, antibodies; MD, muscular dystrophies; I.M., intramuscular; I.V., intravenous; rAAV, recombinant adeno-associated virus.