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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tyler
Tyler Murphy is the TIDE-BC research assistant with the Division of Neurology. Using the TIDE protocol on a daily basis, Tyler screens for appropriate neurology patients and enrols them into the TIDE study. Tyler has the opportunity to meet many of the families as he obtains their consent and responds to the many questions families have about TIDE and what it might mean for their children. Tyler is also working with Dr. Clara van Karnebeek and Wynona Giannasi to evaluate the TIDE Complex Diagnostic Clinic, determining the costs and benefits of providing care for complex children using an innovative and collaborative model with multiple departments across BC Children’s. Tyler will be presenting this work on behalf of the TIDE team at the upcoming CAPHC Conference later in October.

On the success of TIDE thus far, Tyler comments, “The collaboration between divisions is very positive. My main work is in neurology and I can see the benefit of the relationships that have been created because of TIDE between Neurology and Biochemical Diseases”. No doubt these positive relationships are helping to bridge clinical care and research – to the benefit of patients and families.
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The TIDE team has led a new collaboration of clinicians and scientists from across Canada, the USA and Europe investigating dietary lysine restriction as a novel treatment in addition to standard pyridoxine therapy for Pyridoxine-Dependent Epilepsy (PDE). The problem that the TIDE set out to solve: Pyridoxine controls seizures but the accumulation of potentially neurotoxic metabolites (biomarkers) continues, causing cognitive impairments and developmental delays in 75% or more of patients. A diet low in lysine can prevent buildup of toxic waste products caused by the enzyme deficiency underlying this metabolic epilepsy. Preliminary study results implemented in 7 children have been published (onlink to the whole PDE article in Mol Genet Metab) and are most encouraging. Dietary lysine restriction in addition to pyridoxine resulted in significant reduction of all damaging biomarkers, with good tolerance and compliance. No adverse events were reported and improvements in age-appropriate skills in 4 out of 5 children were noted and seizure control was maintained or improved in 6 out of 7 children.

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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.

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A collaborative retreat was held in July 2012 to build momentum on existing achievements supporting individualized medicine and complex care within TIDE. Multidisciplinary clinicians and scientists came together representing expertise in methodology, medical anthropology, care management for children with complex neurodevelopment disorders and rare diseases, individualized medicine, communications and lean management practices. Work was presented out of Drs Jean Paul Collet’s, Osman Ipsiroglu’s, Bill McKellin’s and Clara van Karnebeek’s groups. The impetus of this meeting was two-fold: the need for care delivery models to support personalized care for complex children and the desire for enhanced alignment between TIDE projects with personalized care components. The overall goal is to improve care of children with complex needs.

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Translating Research into Better Care
Drs. Clara van Karnebeek and Ramona Salvarinova presented on behalf of the TideX team the first report of a newly discovered inborn error of metabolism, carbonic anhydrase 5A (CA5A) deficiency at the September 2012 International Society for the Study of Inborn Errors of Metabolism (SSIEM) meeting. This enzyme is pivotal for normal cell function. The impact for patients is significant as the genetic condition is treatable. The list of treatable intellectual disabilities has now expanded to 82. Early recognition of the disease, which causes life-threatening symptoms at birth, allows intervention to prevent brain damage. This discovery is a breakthrough, as it allows us to better understand how the body produces energy and neutralizes toxins.

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Within 1 year of establishing its research and clinical care program, TIDE-BC:
  • discovers a new Treatable Intellectual Disability which expands our understanding of intermediary metabolism (read more...)
  • is the 1st world-wide to report promising results of new therapy for a metabolic epilepsy (read more…)
  • publishes on the www.treatable-id.org App as clinical tool to improve care for diseases (read more…)
The above is proof that TIDE succeeds in the missions they set out to accomplish in 2011:
  1. bridging the Ringroad & Translation of Knowledge into Better Care;
  2. increasing the number of treatable intellectual disabilities, from 81 in 2011 to 82 (and counting) in 2012;
  3. establishing global leadership in the field or rare metabolic diseases.
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An international consortium established by Tide-BC members met early in September 2012 to reach consensus on protocols for implementing and studying dietary lysine restriction as novel treatment for Pyridxone Dependent Epilepsy.
BC Children’s Hospital researchers lead the collaboration of clinicians and researchers across Canada, Europe and the USA, and are publishing exciting first results of an intervention which can dramatically improve outcomes of affected affected patients.
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The 'Rare Disease Report' website, an independent voice on rare diseases, features TIDE-BC with focus on the treatable intellectual disability APP. In an interview, Clara van Karnebeek highlights the innovative approach to developmental delays at BC Children's Hospital. The full article is available here.
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