Hugh McMillan

Professor, Department of Pediatrics, University of Ottawa

Pediatric Neurologist and Neuromuscular specialist at the Children’s Hospital of Eastern Ontario

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Dr. McMillan is a Pediatric Neurologist with specialization in Clinical Neurophysiology and Neuromuscular medicine at the Children’s Hospital of Eastern Ontario. He is a Professor in the Department of Pediatrics, Faculty of Medicine at the University of Ottawa.  He holds a Clinical Research Chair (Level 2) at the University of Ottawa and is a Clinical Investigator at the CHEO Research Institute

He has been an author of over 125 publications in peer-review journals and was a co-editor of a Pediatric Electromyography textbook.  He is also a leader in clinical and translational research in pediatric neurology & neuromuscular medicine.

Dr. McMillan completed a Neuromuscular and Neurophysiology Fellowship at Boston Children’s Hospital, Harvard University and the Lahey Clinic, Tufts University; a Pediatric Neurology Residency at the Children’s Hospital of Eastern Ontario, University of Ottawa and a Pediatric Residency at McMaster Children’s Hospital, McMaster University.

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Recent publications

Mackley, MP, Richer, J, Guerin, A, Caluseriu, O, Armstrong, L, Blood, KA et al.. Mainstreaming of clinical genetic testing: a conceptual framework. Genet Med. 2025. 101465 PMID:40417744

Pace, AC, Poon, C, Chakraborty, P, Oskoui, M, McMillan, H, Mackenzie, A et al.. Systematic review for economic evaluations on newborn screening for spinal muscular atrophy. J Neuromuscul Dis. 2025. 22143602251336862 PMID:40400315

Gauvreau, G, Behlim, T, Ng, P, Hodgkinson, V, Selby, K, Mah, JK et al.. Respiratory and Bulbar Support in Spinal Muscular Atrophy Type I Treated with Nusinersen. Can J Neurol Sci. 2025. 1-8 PMID:40357918

Tsampalieros, A, McKim, D, Barrowman, N, Bijelic, V, Mah, JK, McMillan, HJ et al.. Lung Volume Recruitment and Quality of Life in Duchenne Muscular Dystrophy: Secondary Analysis of the STEADFAST Randomized Controlled Trial. Ann Am Thorac Soc. 2025. PMID:40185084

Ward, LM, Weber, DR, Wong, SC, Apkon, S, Clemens, PR, Cripe, LH et al.. A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape. J Neuromuscul Dis. 2025.12 (1)22143602241303370 PMID:39973454

McMillan, HJ, Baranello, G, Farrar, MA, Zaidman, CM, Moreno, T, De Waele, L et al.. Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study. Neurology. 2025.104 (2)e210268 PMID:39804575

Jaremek, A, Chisvin, R, Kutcher, SA, Webster, RJ, Kazoun, F, Goldbloom, EB et al.. Decreased Incidence of Pediatric Neuro-Autoimmune Disorders During COVID-19 Pandemic Restrictions. J Child Neurol. 2025.40 (4)241-248 PMID:39574034

Del Gobbo, GF, Wang, X, MacDonald, SK, Liang, Y, Care4Rare Canada Consortium, McMillan, HJ et al.. A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy. Am J Med Genet A. 2025.197 (4)e63944 PMID:39559931

McMillan, HJ, Gonorazky, H, Campbell, C, Chrestian, N, Crone, M, Dowling, JJ et al.. Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies. Can J Neurol Sci. 2024. 1-3 PMID:39534980

Gotfrit, R, Wilson, N, Matzinger, M, McMillan, HJ. Internal Carotid Arteritis Associated with Sinusitis in a Child: Potential Benefit of Corticosteroids. Can J Neurol Sci. 2024. 1-3 PMID:39450494

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