We will apply various evaluation tools and health economic research to substantiate the effects of our activities. Our research will benefit two groups of patients that experience similar difficulties related to suffering a chronic condition in modern society: intellectual disability (ID) and inborn errors of metabolism (IEM). This union will be synergistic as the high incidence of ID (than 20-fold any treatable IEM) outweighs the epidemiological disadvantage of rare IEM, while the potential therapeutic susceptibility of the latter will motivate clinicians and policymakers to search actively and treat appropriately.
In summary the objectives of our CAI are innovative and create novel opportunities for knowledge development in numerous respects: our endeavour belongs to one of the first to introduce evidence-based medicine in rare diseases and is the first diagnostic protocol to prioritize the identification of treatable causes of ID.
We will develop and apply novel methodologies for treatments of rare diseases and use digital platforms for knowledge dissemination.
  1. Implementation of the new protocol will contribute to improved child health in multiple ways [+]

    1. Simultaneous referrals to various services will be reduced. The freed and newly available resources could be directed towards those with more specific needs. Shortening of wait times will increase patient/family satisfaction whilst reducing the time-interval to diagnosis and treatment, with expected benefits to child health.
    2. Diagnosis and access to causal treatments will increase. After 18 months we expect to have evaluated ~800 patients. The genetic condition in a small but important proportion of these children (conservative estimate: >2% /n = 16) is amenable to treatment, enabling access to timely and appropriate intervention with a profound impact on health outcome. In particular, young children with preserved brain plasticity will benefit the most. Older children may not benefit in terms of IQ improvement but accompanying behavioural problems or epilepsy may still improve on treatment. Even in the absence of causal therapy, successful determination of the genetic aetiology of ID is pivotal in generating and translating knowledge relevant to the anticipatory healthcare needs of the individual and their family, and minimizing gaps or disparities in care.
    3. Our new diagnostic and care infrastructure will also benefit ID patients in whom no diagnosis is established. First, because they are registered in our database and the classification of their phenotypes may allow for establishing a diagnosis via genomic testing in the future.

  2. The establishment of a multi specialty ID clinic will give a home to some of the most severely affected patients [+]

    Demonstrating the beneficial results of our innovative pilot project in B.C. through its multiple publication opportunities and our novel digital dissemination methods, will encourage adoption of our protocol as a Best Care Practice nationally and internationally. Timely diagnosis and initiation of causal therapy will improve outcomes for all children worldwide.

  3. Setting the stage for the improved overall quality of treatments for IEM [+]

    The development and application of appropriate methodology to demonstrate the evidence of treatments in small patient numbers will set the stage for the improved overall quality of treatments for IEM.
    In the future, children with rare IEMs will receive treatments with greater evidence of their benefit and treatments without demonstrable benefit will be avoided. The implementation of novel self-care strategies combined with advanced communication platforms will enhance adherence to treatments and thus improve individual outcomes and well-being of children and their parents. Exploring anthropological and ethical considerations will provide insight into problems surrounding access to rare disease treatment and trial participation, as well as the formulation of best interest policies for drug and trial access.

  4. Our contribution to building capacities for bioinformatics analysis is an investment for the future [+]

    Demonstrating the beneficial results of our innovative pilot project in B.C. through its multiple publication opportunities and our novel digital dissemination methods, will encourage adoption of our protocol as a Best Care Practice nationally and internationally. Timely diagnosis and initiation of causal therapy will improve outcomes for all children worldwide.

  5. Spreading the newly obtained knowledge through knowledge dissemination and educational activities [+]

    Our knowledge dissemination and education activities will spread the newly obtained knowledge among various stakeholders including health care professionals, patients and their advocates, and society in general. This will facilitate a paradigm shift regarding the treatability of ID and impact public policies regarding the funding of diagnostic tests and treatments.

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TIDE BC & Benefits to Child Health



Funding

TIDE-BC is the first Collaborative Area of Innovation funded through the BC Children's Hospital Foundation, Vancouver, Canada. To expand the project (inter-)nationally funding application is ongoing.

Copyright 2011 - 2016

All information on this website is under the copyright of the authors
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Contact Information

TIDE BC / Biochemical Diseases Clinic
BC Children's Hospital
Rm K3-208, ACB
4480 Oak Street
Vancouver, B.C. V6H 3V4

Phone: 604-875-2628 (administrative)
Phone: 604-875-2880 (clinic)
FAX: 604-875-2349