New treatments for mitochondrial disease—no time to drop our standards

Unintended effects of orphan product designation for rare neurological diseases

(2012) Sinéad M. Murphy et al.   ANNALS OF NEUROLOGY

Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy

(2012) Alfredo A. Sadun   ARCHIVES OF NEUROLOGY

Ethical Considerations in Orphan Drug Approval and Use

(2012) A S Kesselheim   CLINICAL PHARMACOLOGY & THERAPEUTICS

Developing outcome measures for pediatric mitochondrial disorders: Which complaints and limitations are most burdensome to patients and their parents?

(2012) Saskia Koene et al.   MITOCHONDRION

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

(2012) Francis G. Blankenberg et al.   MOLECULAR GENETICS AND METABOLISM

Steroid Responsive A3243G Mutation MELAS

(2012) Brian P. Walcott et al.   NEUROLOGIST

Idebenone in Friedreich ataxia cardiomyopathy—results from a 6-month phase III study (IONIA)

(2011) Sarah J. Lagedrost et al.   AMERICAN HEART JOURNAL

The creatine kinase system and pleiotropic effects of creatine

(2011) Theo Wallimann et al.   AMINO ACIDS

α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

(2011) William D. Shrader et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

Targeting Mitochondrial Dysfunction and Neurodegeneration by Means of Coenzyme Q10 and its Analogues

(2011) D. Orsucci et al.   CURRENT MEDICINAL CHEMISTRY

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study

(2011) E. Mazzone et al.   NEUROLOGY

CPEO and carnitine deficiency overlapping in MELAS syndrome

(2010) C.-C. Hsu et al.   ACTA NEUROLOGICA SCANDINAVICA

A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia

(2010) David R. Lynch et al.   ARCHIVES OF NEUROLOGY

Mitochondrial myopathies: developments in treatment

(2010) Adam Hassani et al.   CURRENT OPINION IN NEUROLOGY

A randomized trial of coenzyme Q10in mitochondrial disorders

(2010) Elisa I. Glover et al.   MUSCLE & NERVE

Orphan drug development is not taking off

(2009) Roberta Joppi et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Translation of rare disease research into orphan drug development: disease matters

(2009) Harald E. Heemstra et al.   DRUG DISCOVERY TODAY

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

(2009) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade

(2009) Douglas S. Kerr   MOLECULAR GENETICS AND METABOLISM

The FDA Critical Path Initiative and Its Influence on New Drug Development

(2008) Janet Woodcock et al.   Annual Review of Medicine

Evaluation of Long-term Treatment of Children With Congenital Lactic Acidosis With Dichloroacetate

(2008) P. W. Stacpoole et al.   PEDIATRICS