null Hugh McMillan, MD, M.Sc.

Investigator, RI-MUHC, Glen site

Child Health and Human Development Program

Associate Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University



neuromuscular • pediatric • clinical translational research • spinal muscular atrophy • muscular dystrophy • neurophysiology

Research Focus

My research focuses upon translational research with the goal of making emerging therapies available to children and young adults who have rare neuromuscular and neurological diseases. This work is largely carried out through clinical trials. I have been the most responsible site investigator for over 15 regulated clinical trials evaluating treatments for children with spinal muscular atrophy and Duchenne muscular dystrophy, among other neuromuscular disorders. Gene therapies have been a particular interest. In 2019 my research team was involved with the AAV9-mediated gene replacement treatments for pre-symptomatic infants with spinal muscular atrophy. I also perform neurophysiological testing (nerve conduction studies and electromyography) to help diagnose and characterize rare diseases as well as contribute to the understanding of other childhood diseases, such as pediatric cancers and complications that may arise in their treatment.

Selected Publications

Click on Pubmed to see my current publications list

  • McMillan HJ, Gerber B, Cowling T, Khuu W, Mayer M, Wu, JW, Matur, B, Klein-Panneton K, Cabalteja C, Lochmüller H. Burden of spinal muscular atrophy (SMA) on patients and caregivers in Canada. J Neuromusc Dis. PMID: 33749617.

  • McMillan HJ, Kernohan K, Amburgey K, Boyd J, Campbell C, Dowling J, Gonarzky H, Marcadier J, Tarnopolsky M, Vajsar J, Mackenzie A,Chakraborty P. Newborn screening Ontario inclusion of spinal muscular atrophy. Can J Neurol Sci. 2020: Oct 16:1-24. doi: 10.1017/cjn.2020.229. Online ahead of print. PMID: 33059774.

  • McMillan HJ, Davila G, Osmond M, Chakraborty P, Care4Rare Canada Consortium, Boycott KM, Dyment DA, Kernohan KD. Whole genome sequencing identified pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly and normal stature. Am J Med Genet A. 2021. PMID: 34405953.

  • Joyal KM, MacGregor JV, Hayawi LM, Webster RJ, McMillan HJ. Not so shocking: electromyography in pediatric remains feasible and diagnostically useful. Can J Neurol Sci. 2021. PMID: 34392843.

  • McMillan HJ, Amid A, Gonorazky H, Almobarak S, Campbell C. Drisapersen associated with elevated serum factor VIII levels in Duchenne muscular dystrophy. Neurology. 2020 Feb 19. doi: 10.1212/WNL.0000000000009139. PMID: 32075891.