Mark Tarnopolsky

Mark Tarnopolsky

Co-Applicant

Professor of Pediatrics and Medicine, Director of Neuromuscular and Neurometabolic Clinic, McMaster University Medical Center

CEO/CSO Exerkine Corporation


NMD4C Involvement: Pillar 1: Preclinical Science

Email Mark

Research Interests: Mitochondrial disease, Neurogenetic diagnostics, Neurometabolic disorders, MD therapeutics, Aging/sarcopenia, Obesity

Academic web profile
Google Scholar profile

Biography

Dr. Tarnopolsky is a neuromuscular and neurometabolic clinician-scientist who received an MD and PhD (Cell Biology and Metabolism) from McMaster University.  He currently holds an endowed chair from McMaster Children’s Hospital Foundation in the area of neuromuscular and neurometabolic genetic disorders and follows over 1500 patients with myopathies, mitochondrial disorders and other neurogenetic disorders. He has published over 500 peer reviewed papers and has an h-index of 142.  His research focuses on pharmacological, nutraceutical and exercise therapies for neuromuscular and neurometabolic disorders, aging, obesity and other disorders that affect the mitochondria and muscle function.  He is the founder, CEO and CSO of Exerkine Corporation which is a bio-technology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy and mitochondrial disorders.


Recent Publications

Karaa, A, Goldstein, A, Cohen, BH, Haas, RH, Vockley, J, Gorman, GS et al.. RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy. Clin Genet. 2026.109 (1)86-98 PMID:40785393

Kishnani, PS, Byrne, BJ, Claeys, KG, Díaz-Manera, J, Dimachkie, MM, Kushlaf, H et al.. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. J Patient Rep Outcomes. 2024.8 (1)132 PMID:39535661

Schoser, B, Kishnani, PS, Bratkovic, D, Byrne, BJ, Claeys, KG, Díaz-Manera, J et al.. 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07). J Neurol. 2024.271 (5)2810-2823 PMID:38418563

Kishnani, PS, Diaz-Manera, J, Toscano, A, Clemens, PR, Ladha, S, Berger, KI et al.. Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial. JAMA Neurol. 2023.80 (6)558-567 PMID:37036722

Lucia, A, Martinuzzi, A, Nogales-Gadea, G, Quinlivan, R, Reason, S, International Association for Muscle Glycogen Storage Disease study group et al.. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group. Neuromuscul Disord. 2021.31 (12)1296-1310 PMID:34848128

Schoser, B, Roberts, M, Byrne, BJ, Sitaraman, S, Jiang, H, Laforêt, P et al.. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol. 2021.20 (12)1027-1037 PMID:34800400

Diaz-Manera, J, Kishnani, PS, Kushlaf, H, Ladha, S, Mozaffar, T, Straub, V et al.. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol. 2021.20 (12)1012-1026 PMID:34800399

Renaud, M, Tranchant, C, Martin, JVT, Mochel, F, Synofzik, M, van de Warrenburg, B et al.. A recessive ataxia diagnosis algorithm for the next generation sequencing era. Ann Neurol. 2017.82 (6)892-899 PMID:29059497

Parikh, S, Goldstein, A, Koenig, MK, Scaglia, F, Enns, GM, Saneto, R et al.. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013.13 (6)681-7 PMID:24063850

Rosenfeld, JA, Traylor, RN, Schaefer, GB, McPherson, EW, Ballif, BC, Klopocki, E et al.. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet. 2012.20 (7)754-61 PMID:22317977

See more on PubMed