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) further analysis of the results of a phase 2 study of high dose idebenone treatment for Friedreich's ataxia, (2) analysis of the results of a cross sectional study of spinal and bulbar muscular atrophy (SBMA, Kennedy's disease), and (3) completion of a phase 2 clinical trial to test the feasibility of dutasteride treatment for SBMA. The Friedreich's idebenone trial showed evidence of neurological efficacy with intermediate and high dose treatment in ambulatory subjects. The SBMA dutasteride trial also showed evidence of efficacy, although the primary outcome measure, quantitative muscle testing, did not show a significant benefit.

Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Zip Code
Guber, Robert D; Kokkinis, Angela D; Schindler, Alice B et al. (2017) Patient-Identified Impact of Symptoms in Spinal and Bulbar Muscular Atrophy. Muscle Nerve :
Mankodi, Ami; Azzabou, Noura; Bulea, Thomas et al. (2017) Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy. Neuromuscul Disord 27:705-714
Mankodi, Ami; Bishop, Courtney A; Auh, Sungyoung et al. (2016) Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy. Neuromuscul Disord 26:650-658
Bott, Laura C; Salomons, Florian A; Maric, Dragan et al. (2016) The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex. Sci Rep 6:27703
Shrader, Joseph A; Kats, Ilona; Kokkinis, Angela et al. (2015) A randomized controlled trial of exercise in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol 2:739-47
Hashizume, Atsushi; Katsuno, Masahisa; Suzuki, Keisuke et al. (2015) A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study. Neuromuscul Disord 25:554-62
Meilleur, Katherine G; Jain, Minal S; Hynan, Linda S et al. (2015) Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscul Disord 25:43-54
Grunseich, Christopher; Fischbeck, Kenneth H (2015) Spinal and Bulbar Muscular Atrophy. Neurol Clin 33:847-54
Grunseich, C; Rinaldi, C; Fischbeck, K H (2014) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20:6-9
Lynch, David R; Fischbeck, Kenneth H (2014) Nicotinamide in Friedreich's ataxia: useful or not? Lancet 384:474-5

Showing the most recent 10 out of 25 publications