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.

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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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Launched in November 2011, in the presence of Mr Larry Gold and colleagues at BC Children’s Hospital and other UBC institutions, the TIDE App has now been rocketed (via a publication in the Orphanet Journal for Rare Diseases) into the world to facilitate the diagnostic work-up of intellectual disability patients. Recent numbers show that the app is visited & used by 300-400 new people every week!
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It has been six months since TIDE BC was officially launched and Dr. Clara van Karnebeek and her TIDE BC partners have already presented some of their ground-breaking work at the Garrod Association Conference, held in the first week of May, in Winnipeg. The Garrod Association is made up of members of the Canadian Association Of Centers For The Management of Hereditary Metabolic Disorders and represents over one hundred top-tier clinicians, researchers and decision-makers in the field of inherited metabolic disorders. Dr van Karnebeek presented both the methods and the progress made so far in TIDE BCs evidence-based diagnostic protocol that is used to quickly identify children with treatable forms of global developmental delay/intellectual disability, also known as treatable IEMs.

First presented was TIDE BCs multi-level diagnostic method, with the supporting Web App also detailed:

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TIDE BC's preliminary success in finding patients with treatable IEMs was highlighted.

In the first 6 months, 130 patients were enrolled in the TIDE BC program, with 25% of these patients having a confirmed, and 17%, a probable, diagnosis. Of these, 10 patients were identified with a treatable metabolic condition and are now on track for a treatment program that supports their ability to achieve a greater level of development and intellectual ability. What is clear from these early results is that this novel approach has the potential to improve outcomes of many children who would have unnecessarily developed significant developmental and intellectual disabilities.
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