Abstract

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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIANS003037-04
Application #
8158222
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2010
Total Cost
$649,000
Indirect Cost

  Institution

Name
National Institute of Neurological Disorders and Stroke
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Arnold, Eveline S; Fischbeck, Kenneth H (2018) Spinal muscular atrophy. Handb Clin Neurol 148:591-601
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; Kovacs, William; Norato, Gina et al. (2017) Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy. Ann Clin Transl Neurol 4:655-662
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

Showing the most recent 10 out of 27 publications