Table 3. Drug trials in patients with recessive ataxias (for idebenone trials in Friedreich's ataxia, see Table 2).
| Ataxia | Drug | Study design | No. of patients | Outcome | Study |
|---|---|---|---|---|---|
| Friedreich's ataxia | Coenzyme Q10 400 mg/die+ vitamin E 2,100 IU/die 6 months+47 months |
Open label | 10 | Stable neurological condition after 6 months. Echocardiography: increased fractional shortening after 47 months. 3IP-MR spectroscopy: improvement of ATP production in cardiac and calf muscle throughout 47 months | Lodi et al. [43] and Hart et al. [44] |
| Friedreich's ataxia | Conzyme Q10 600 mg/die+ vitamin E 2,100 IU/die vs. Q10 30 mg/die+Vit E 24 IU/die 2 years |
Randomized, double-blind, comparative high-vs. low-dose study | 50 | Progression of ataxia in both groups | Cooper et al. [45] |
| Friedreich's ataxia | rhuEPO 5,000 U thrice a week s.c. 8 weeks |
Open label | 12 | Increase in frataxin levels in lymphocytes. Reduction of oxidative stress markers | Boesch et al. [49] |
| Friedreich's ataxia | rhuEPO 2,000 U thrice a week s.c. 6 months |
Open label | 8 | Improvement in SARA by 5.2 points. Increase in frataxin levels in lymphocytes by 24 %. Reduction of oxidative stress markers Side effects: need of phlebotomy in 4/8 patients due to increase in hematocrit |
Boesch et al. [52] |
| Friedreich's ataxia | rhuEPO Increasing doses from 20,000 U every 3 weeks to 40,000 U every 2 weeks s.c. 6 months |
Randomized placebo-controlled, double-blind | 16 | No effect on SARA, frataxin levels, and hematologic parameters | Mariotti et al. [53] |
| Ataxia with vitamin E deficiency | Vitamin E 800 mg/die 12 months |
Open label | 24 | Reduction of 10 points in ICARS. Improvement mainly of action tremor | Gabsi et al. [54] |
| Ataxia with vitamin E deficiency | Vitamin E 300-2,400 mg/die 2-11 years |
Retrospective, open label | 16 | Stable neurological condition in most patients | Mariotti et al. [55] |
| Ataxia with coenzyme Q10 deficiency | Coenzyme Q10 600-3,000 mg/die 1 month-4 years |
Retrospective, open label | 6 | Reduction of 26 points in ICARS | Musumeci et al. [59] |
| Ataxia telangiectasia | Betamethasone 0.01 mg/kg/die+0.03 mg/kg/die 20 days each |
Open label | 6 patients who previously responded to betamethasone 0.1 mg/kg/die | Reduction in SARA by 2.7 points with 0.01 and by 5.5 points with 0.03 mg/kg/die | Broccoletti et al. [63] |
| Ataxia telangiectasia | Betamethasone 0.1 mg/kg/die 30 days |
Double-blind, randomized, Placebo-controlled crossover | 13 | Improvement of 17 points in ICARS with betamethasone vs. 4.5 points with placebo | Zannolli et al. [64] |
EPO erythropoietin