Hugh McMillan

Investigator, CHEO Research Institute

Dr. McMillan is an Associate 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 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 has been an author or co-author of 90 publications in peer-review journals.  He has recently been a senior editor of a
Pediatric Electromyography textbook with over 25 international contributors.  He is a Member of the Scientific Advisory Board for Muscular Dystrophy Canada.

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 several industry-sponsored clinical trials.  Active and recent clinical trials include for spinal muscular atrophy: gene replacement therapies (AveXis’ SPR1NT trial) for pre-symptomatic infants with SMA, as well as for boys and young men with Duchenne muscular dystrophy; gene replacement therapy (Pfizer); dissociative corticosteroid (ReveraGen); NF-kB inhibitor therapy (Catabasis); non-sense mediated read-thru therapies (PTC Therapeutics) and antisense oligonucleotide treatments (Sarepta).

Research Projects

  1. 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.

  2. 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.

  3. 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.

  4. 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.