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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Together with the dieticians in BC Children's Hospital, we've created an exciting line-up of diet apps. These apps are designed to support families and children who suffer very rare disorders like: Maple Syrup Urine Disease, Pyridoxine dependent epilepsy, Phenylketonuria and 12 others.You can read more about these apps and try them out via this link:http://www.metabolicdietapp.org
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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

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CIMDRN-Eng-Burgundy
From the 3rd through 5th of April a group of investigators from the University of Ottawa (Dr. Beth Potter, PI, Sara Khangura, manager, the Canadian Inherited Metabolic Diseases Research Network (CIMDRN), Monica Hernandez, REDCap manager and Kylie Tingley, PhD student), representing CIMDRN, visited the Biochemical Diseases team at BC Children’s Hospital, with the objective of discussing a research initiative on PKU to TIDE researchers Drs, Sylvia Stockler, Clara van Karnebeek and Hilary Vallance, who are Vancouver-based co-PIs in CIMDRN. BCCH is among the first Canadian sites to have received ethics review board approval for enrolment of patients in an observational database designed to capture long term outcomes of patients with rare inborn errors of metabolism (IEM). During CIMDRN’s visit, Dr. Potter presented the Network objectives and goals to patients and their families at the BC CanPKU Day (a yearly event for PKU families) together with Dr. Sylvia Stockler, who presented an overview of ongoing clinical studies conducted at the Vancouver campus for and with patients with PKU. The Vancouver team has enrolled the first patients in the PKU database. Dr. Nataliya Yuskiv is coordinating patient enrollment.

PKU, as one of the most frequent, treatable intellectual disabilities, is a CIMDRN priority disease. In BC alone there are approximately 300 individuals, ranging in age from 0-50 years, diagnosed with PKU and every year approximately 4 children are born with this condition province-wide.

Other CIMDRN Initiatives
CIMDRN also includes databases for ultra-rare conditions. Guanidinoacetate methyltransferase deficiency (GAMT) is a treatable intellectual disability with only 80 patients known worldwide. Canada has 8 patients whose longitudinal outcomes will be captured by a CIMDRN database. The database is spearheaded by Dr. Sylvia Stockler who first described this disease in 1996 and recently conducted an international survey on treatments and long term outcomes including 48 patients with this disease (see report last tide newsletter).
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