Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.

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Recently the TIDE team in collaboration with clinicians from across Canada received a catalyst grant from CIHR to investigate the effects of a new drug to improve outcomes in PKU (Phenylketonuria). PKU is the first treatable ID which has made strides since its discovery as a treatable ID in the 1960s to the development of a sophisticated diet low in phenylalanine and worldwide implementation of newborn screening to prevent ID in affected children. So far diet has been the only therapeutic option, which despite its overall effectiveness to prevent severe ID, has its downsides including arduous restriction of dietary protein which is widely replaced by synthetic aminoacid mixtures and expensive low protein food. Sapropterin-hydrochloride (Kuvan®) is the first pharmacologic treatment for PKU, which has the potential to reduce blood phenylalanine levels and allow a more liberal diet for patients. Our research is about describing the various response patterns of this drug in children with PKU. Findings will help to define clinically meaningful outcomes and identify those patients who will realize the most advantage of this costly new drug.


Dr. Sylvia Stockler is the Principal Investigator together with Drs Bruce Carleton, Jean Paul Collet, Clara van Karnebeek and Rollin Brant from BC Children’s Hospital / Child & Family Research Institute, and John Mitchell from Montreal Children’s Hospital as CoPis. Numerous physicians who are treating patients with PKU across the Provinces are collaborators. Chris Cameron (University of Ottawa) is investigating the cost effectiveness of this drug in subpopulations of patients with PKU. Sravan Jaggumantri participates as PhD student interested in EBM in rare diseases. Dr Rajavel Elango (Child&Family Research Institute) has developed a stable isotope breath test as a tool to better characterize the changes of phenylalanine tolerance in response to Kuvan. The entire study would not happen without the strong support of the metabolic dietitians (Keiko Ueda, Barb Cheng, Alette Giezen) and physicians (Yolanda Lillquist, Ramona Salvarinova, Gabriella Horvath) managing the diets and the medical care of these children. Dr Cynthia Davis and Karen Mackenzie) are in charge of testing cognitive and behavioural outcomes. Nataliya Yuskiv and Delia Apatean are coordinating the various studies BC Children’s Hospital is involved in to demonstrate evidence of clinical effectiveness of Sapropterin.
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