John J. Mitchell, M.D., M.Sc., FRCP, Endocrinologue pédiatre

J'aime le rouli-roulant.
Renseignements hospitaliers
Professeur agrégé de génétique humaine et de pédiatrie, Université McGill
Association des chercheurs cliniques du CUSM, membre du comité directeur
Éducation
B. Sc ., psychologie biologique, université de la Colombie-Britannique
Université de la Colombie-Britannique
Pédiatrie, l'Hôpital de Montréal pour enfants, Université McGill
Endocrinologie pédiatrique, L'Hôpital de Montréal pour enfants, Université McGill;
Génétique biochimique, Children’s Hospital at Westmead-université de Sydney, Australie
Recherche
Je m’intéresse au traitement des maladies métaboliques rares appelées maladies orphelines. Les maladies comme la phénylcétonurie ou les maladies lysosomales sont causées par l’absence d’une enzyme spécifique. Je fais de la recherche sur des thérapies de pointe pour les maladies orphelines, notamment les traitements « chaperons », les enzymothérapies de substitution et les thérapies géniques. Je m’intéresse aussi à la façon dont les gouvernements du Québec et du Canada évaluent ces thérapies orphelines et statuent sur leur approbation et leur couverture.
- Phénylcétonurie
- Syndrome de Morquio
- Maladie de Farber
- Maladies lysosomales
- Glycogénose
- Maladies orphelines
PCU, syndrome de Morquio, maladie orpheline, thérapie orpheline
Goudie C, Alayoubi A*, Tibout P, Duval M, Maranda B, Mitchell D, Mitchell JJ, Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case reports and literature review. Journal of Inherited Metabolic Disease Reports, 2019;46:46–51 doi 10.1002/jmd2.12008
Steunenberg TAH F. Peeks,F I.J. Hoogeveen IJ, Mitchell JJ, H. Mundy H, de Boer F, Lubout CMA, de Souza CF, D.A. Weinstein DA, Derks TGJ. Safety Issues Associated with Dietary Management in Patients with Hepatic Glycogen Storage Disease, Molecular Genetics and Metabolism, 125:79-85, 2018. doi: 10.1016/j.ymgme.2018.07.004
Clarke L, Ellaway C, Foster H, Gigliani R, Goizet C, Hawley S, Jurecki E, Zhan Z, Lampe C, Martin K, McMullen S, Mitchell J, Mubarack F, Muenzer J, Sivri S, Stewart FJ, Tylki-Szymanska A, White K, Wijburg F, Understanding the early presentation of mucopolysaccharidosis: results of a systematic literature review and physician survey, Journal of Inborn Errors of Metabolism and Screening, 7:1-12, 2018. doi.org/10.1177/2326409818800346
TingleyK, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsoroglu S and Potter BK Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases, Orpahanet Journal of Rare Disease, 13, 104, 2018, doi.org/10.1186/s13023-018-0851-1
Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Roncarolo F, Pizzino A, Dilenge M-E, Poulin M, Majnemer A, Sebire G, Srour M, Osterman B, Boucher R-M, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffman R, Goizet C, Moutton S, Bernard G. Health-related quality of life for genetically determined leukoencephalopathy patients and their families, Developmental Medicine and Child Neurology, 84 21-26, 2018, doi.org/10.1016/j.pediatrneurol.2018.03.015
Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Norberto Guelbert N, Stewart F, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study, Molecular Genetics and Metabolism, 2018 Feb;123(2):127-134, doi.org/10.1016/j.ymgme.2017.11.015
Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L , Tingley K, Chakraborty P, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nichols S, Offringa M, Schulze A, Taljaard M in collaboration with the Canadian Inherited Metabolic Disease Research Network. Establishing Core Outcome. Sets for Phenylketonuria (PKU) and Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Children: Protocol , Trials, 2017, 18:603 doi:10.1186/s13063-017-2327-3.
Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton V, Pastores GM, Lau H, Sparkes R, Shaywitz A, Cardiopulmonary exercise testing reflects improved exercise capacity in response to treatment in Morquio A patients: Results of a 52 week pilot study of two different doses of Elosulfase Alfa, JIMD reports, DOI: 10.1007/8904_2017_70.
Shapiro EG, Escolar ML, Delaney K, Mitchell JJ. Assessment of neurocognitive function in mucopolysacchardoses. Molecular Genetics and metabolism, Dec;122S:8-16. doi: 10.1016/j.ymgme.2017.09.007
Rapoport D, Mitchell John J. Pathophysiology, evaluation and management of sleep disorders in the mucopolysaccharidoses. Molecular Genetics and Metabolism, 2017 Dec;122S:49-54 , 10.1016/j.ymgme.2017.08.008
Schuchman, E, Mitchell JJ, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy, Expert opinion on orphan drug, published online August 2017.
Nous joindre
- Administration : 514-412-4315, (télécopieur : 514-412-4264)
- Clinique de diabète : 514-412-4436 (télécopieur : 514-412-4264), salle A 02.2227, site Glen
- Clinique d'endocrinologie : 514-412-4400 poste 22482, (télécopieur : 514-412-4216), salle A 02.2227, site Glen