Biomarkers in rare neuromuscular diseases.

Neuromuscular diseases (NMDs) comprise a range of rare disorders that include both hereditary peripheral neuropathies and myopathies. The heterogeneity and rarity of neuromuscular disorders are challenges for researchers seeking to develop effective diagnosis and treatment strategies. In particular, clinical trials of new therapies are made more difficult due to lack of reliable and monitorable clinical outcome measures. Biomarkers could be a way to speed up research in this field, shedding light on the pathophysiological mechanisms behind such diseases and providing invaluable tools for monitoring their progression, prognosis and response to drug treatment. Furthermore, biomarkers could represent a surrogate endpoint for clinical trials, enabling better stratification of patient cohorts through more accurate diagnosis and prognosis prediction. This review summarizes the types, applications, characteristics and best strategies for biomarker discovery to date.

[1]  W. Chung,et al.  SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy , 2013, PloS one.

[2]  A. Y. Lu,et al.  Pharmacogenetics, Pharmacogenomics, and Individualized Medicine , 2011, Pharmacological Reviews.

[3]  G. Nicholson,et al.  Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation , 2002, Journal of neurology, neurosurgery, and psychiatry.

[4]  E. Mercuri,et al.  Muscle histology vs MRI in Duchenne muscular dystrophy , 2011, Neurology.

[5]  D. DeMets,et al.  Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework , 2001, Clinical pharmacology and therapeutics.

[6]  K. Bushara,et al.  FXN methylation predicts expression and clinical outcome in Friedreich ataxia , 2012, Annals of neurology.

[7]  J. Laporte,et al.  Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders , 2013, Acta Neuropathologica.

[8]  G. V. Ommen,et al.  Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD) , 2011, Neuromuscular Disorders.

[9]  R. Bowser,et al.  The application of biomarkers in clinical trials for motor neuron disease. , 2010, Biomarkers in medicine.

[10]  V. Torri,et al.  Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells , 2011, PloS one.

[11]  J. Kaplan.  The 2012 version of the gene table of monogenic neuromuscular disorders , 2011, Neuromuscular Disorders.

[12]  Hugo Y. K. Lam,et al.  Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes , 2012, Cell.

[13]  M. Kiernan,et al.  Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. , 2008, Brain : a journal of neurology.

[14]  Nikolai Daraselia,et al.  Novel Approach to Meta-Analysis of Microarray Datasets Reveals Muscle Remodeling-related Drug Targets and Biomarkers in Duchenne Muscular Dystrophy , 2012, PLoS Comput. Biol..

[15]  A. Nakamura,et al.  Identification of Muscle-Specific MicroRNAs in Serum of Muscular Dystrophy Animal Models: Promising Novel Blood-Based Markers for Muscular Dystrophy , 2011, PloS one.

[16]  L. Kunkel,et al.  miRNAS in normal and diseased skeletal muscle , 2008, Journal of cellular and molecular medicine.

[17]  Yuan-Tsong Chen,et al.  Pharmacogenomics of adverse drug reactions: implementing personalized medicine. , 2012, Human molecular genetics.

[18]  A. Y. Lu,et al.  Pharmacogenomics and Individualized Medicine , 2012 .

[19]  R. Finkel,et al.  Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study , 2012, PloS one.

[20]  C. McDonald,et al.  Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. , 2012, Physical medicine and rehabilitation clinics of North America.

[21]  G. H. Bush,et al.  Pharmacogenetics , 1968 .

[22]  I. Hausmanowa-Petrusewicz,et al.  Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. , 2011, Clinica chimica acta; international journal of clinical chemistry.