The purpose of this research program is to develop safe and effective treatments for hereditary neurological disorders. Specific research accomplishments in the past year include the following: (1) a collaborative study to establish reliable biomarkers for spinal muscular atrophy, (2) completion of a phase 2 study of high dose idebenone treatment for Friedreich's ataxia, and (3) development of a phase 2 clinical trial to test the feasibility of dutasteride treatment for spinal and bulbar muscular atrophy (Kennedy's disease).
| La Pean, Alison; Jeffries, Neal; Grow, Chelsea et al. (2008) Predictors of progression in patients with Friedreich ataxia. Mov Disord 23:2026-32 |
| Di Prospero, Nicholas A; Sumner, Charlotte J; Penzak, Scott R et al. (2007) Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol 64:803-8 |
| Di Prospero, Nicholas A; Baker, Angela; Jeffries, Neal et al. (2007) Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 6:878-86 |
| Sumner, C J; Kolb, S J; Harmison, G G et al. (2006) SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 66:1067-73 |
