Mitochondrial disease patient motivations and barriers to participate in clinical trials

Treatable mitochondrial diseases: cofactor metabolism and beyond

(2016) Felix Distelmaier et al.   BRAIN

“Watching time tick by…”: Decision making for Duchenne muscular dystrophy trials

(2016) Holly L. Peay et al.   Contemporary Clinical Trials

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

(2016) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

(2016) Peter A. Merkel et al.   Orphanet Journal of Rare Diseases

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Improving clinical trial design for Duchenne muscular dystrophy

(2015) Luciano Merlini et al.   BMC Neurology

What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?

(2015) Richard T. Wang et al.   CURRENT OPINION IN NEUROLOGY

Duchenne muscular dystrophy

(2015) Perry B. Shieh   CURRENT OPINION IN NEUROLOGY

Moving towards treatments for spinal muscular atrophy: hopes and limits

(2015) Brunhilde Wirth et al.   EXPERT OPINION ON EMERGING DRUGS

Recruitment strategies and patient selection in clinical trials for Parkinson's disease: Going viral and keeping science and ethics at the highest standards

(2015) Marina Picillo et al.   PARKINSONISM & RELATED DISORDERS

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2014) Sumit Parikh et al.   GENETICS IN MEDICINE

The Role of Patient Advocacy Organizations in Shaping Genomic Science

(2013) Pei P. Koay et al.   Annual Review of Genomics and Human Genetics

Rare Diseases Research

(2013) Stephen C. Groft   CHEST

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

(2013) Elisabeth A. de Blieck et al.   Contemporary Clinical Trials

Mitochondrial Disease

(2013) Kalliopi Sofou   JOURNAL OF CHILD NEUROLOGY

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

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

Review of Clinical Trials for Mitochondrial Disorders: 1997–2012

(2013) Douglas S. Kerr   Neurotherapeutics

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

(2013) Nathalie Kayadjanian et al.   Orphanet Journal of Rare Diseases

Pediatric Patient-Reported Outcome Instruments for Research to Support Medical Product Labeling: Report of the ISPOR PRO Good Research Practices for the Assessment of Children and Adolescents Task Force

(2013) Louis S. Matza et al.   VALUE IN HEALTH

The Rare Diseases Clinical Research Network Contact Registry update: Features and functionality

(2012) Rachel L. Richesson et al.   Contemporary Clinical Trials

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

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

(2012) Elizabeth McCormick et al.   Neurotherapeutics

Why are there no proven therapies for genetic mitochondrial diseases?

(2011) Peter W. Stacpoole   MITOCHONDRION

The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?

(2011) Elizabeth O Lillie et al.   Personalized Medicine

Relationship Between Clinical Outcome Measures and Parent Proxy Reports of Health-Related Quality of Life in Ambulatory Children With Duchenne Muscular Dystrophy

(2010) Craig M. McDonald et al.   JOURNAL OF CHILD NEUROLOGY

A modern approach to the treatment of mitochondrial disease

(2009) Sumit Parikh et al.   Current Treatment Options in 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 mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies☆

(2008) M.A. Tarnopolsky   ADVANCED DRUG DELIVERY REVIEWS

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM