Hugh McMillan

Investigator, CHEO Research Institute

Dr. McMillan is a Professor in the Department of Pediatrics (Division of Pediatric Neurology), Faculty of Medicine at the University of Ottawa.  He joined the Department of Pediatrics at the Children’s Hospital of Eastern Ontario (CHEO) as a Pediatric Neurologist and Neuromuscular Specialist in 2010.

Dr. McMillan’s training includes; medical degree at McMaster University (in 2000) a Pediatric Residency at McMaster University (in 2004); Pediatric Neurology Residency at University of Ottawa (in 2008); Neurophysiology Fellowship in 2009 at Tufts University and a  Neuromuscular Fellowship in 2010 at Harvard University.

Dr. McMillan is the Program Director of the Pediatric Neuromuscular / Electromyography Fellowship Training Program at the University of Ottawa.  He has been an author or co-author of 130 publications in peer-review journals.  He was editor of a Pediatric Electromyography textbook with over 25 international contributors.

Since joining the University of Ottawa, Dr. McMillan has been a national leader in the area of clinical and translational research in pediatric neurology & neuromuscular medicine.  He is a Clinical Investigator at the CHEO Research Institute. He was granted the CHEO RI “Outstanding Investigator Award” for 2018.  He has been the Principal Investigator for over 20 industry or sponsor-initiated clinical trials and two investigator-initiated, regulated clinical trials.  Active and recent clinical trials include for spinal muscular atrophy: gene replacement therapies (Novartis’ SMART trial) for symptomatic children with SMA, as well as for boys and young men with Duchenne muscular dystrophy; gene replacement therapy (Pfizer); dissociative corticosteroid (ReveraGen); and antisense oligonucleotide treatments (Sarepta  DYNE, PepGen).

Research Projects

  1. A randomized, cross-over trial comparing the effect of innovative robotic gait training and functional clinical therapy in children with cerebral palsy; a protocol to test feasibility


  2. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations


    The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.

  3. Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement


    The panel found that electrodiagnostic studies continue to have high utility for the diagnosis of numerous childhood neuromuscular disorders, and that standardized approaches along with the use of high‐quality reference values are important to maximize the diagnostic yield of these tests in infants, children, and adolescents.

  4. Abnormal fatty acid metabolism is a core component of spinal muscular atrophy


    We identify an increased susceptibility to developing dyslipidemia in a cohort of 72 SMA patients and liver steatosis in pathological samples. Similarly, fatty acid metabolic abnormalities were present in all SMA mouse models studied.

  5. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy


    ATP8A2 gene mutations have emerged as the cause of a novel neurological phenotype characterized by global developmental delays, severe hypotonia and hyperkinetic movement disorders, the latter being an important distinguishing feature.