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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A study is currently underway at TIDE, designed to evaluate the safety and efficacy of a novel treatment for glucose transporter deficiency syndrome (Glut1-DS), a rare genetic epilepsy caused by insufficient transport of sugar into the brain, often resulting in developmental delays. A ketogenic diet is standard treatment but in some cases this does not control the seizures and movement disorder. Triheptanoin/C7 oil could provide an alternative source of fuel for the brain, thereby improving brain function and development. In collaboration with Ultragenyx Inc, the company supplying the investigational drug, the study, designed by the TIDE team, is using innovative trial methodology for rare diseases and has obtained approvals from Health Canada and REB. The first patient was enrolled on April 15th and the next phase protocols for further clinical development of Triheptanoin are currently being planned. If successful, this personalized approach to treating Glut1-DS could serve as a model for eliminating seizures and side effects in other types of hard-to-treat epilepsies.

The study is actively recruiting GLUT1-DS patients across Canada Interested?
Please contact us via email: tide-bc@cw.bc.ca



Study Team: Dr. Sylvia Stockler (PI), Dr. Clara van Karnebeek (Co-PI), Dr. Kathryn Selby, Dr. Aspasia Michoulas, Dr. Mary Connolly, Sravan Jaggumantri, Alex Fergusan, Keiko Ueda, Chris Simonson, Francesca Zanotto
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