International PDE Registry

The purpose of this registry is to collect and unite information on phenotype, genotype, natural history and outcomes of this rare disease subgroup as well as current treatment modalities (B6 only, adjunct lysine-restriction diet, other dietary interventions) in order to ascertain which treatment(s) are the most effective.

This is an observational registry that will unite the PDE community, set the stage for successful research, enhance understanding and awareness of this metabolic epilepsy, and ultimately serve to guide clinicians in providing the most effective diagnosis and treatment for their patients We aim to optimize recommendations for monitoring patients, to provide reports on patient outcomes, to evaluate effectiveness of the different treatments and to facilitate the planning of (future) clinical trials.

Be a part of the International PDE Registry. What you need to know:

  • How can I be involved?
    • You can be involved in the registry as a regional investigator. You will need to obtain ethics approval and institutional approval (if required) to become a regional participating site in the International PDE Registry.

    • Central Coordinating Site Staff (BC Children’s Hospital) will help you in preparing the documents for the submission and guide you if you require any clarifications.

    • All study documents can be downloaded via this page.

    Or

    • You can associate yourself with a regional site in your area that already exits and enroll your patients via their site. You will be added to their ethics application as a co investigator and your site as a satellite site.
  • What should I do after I become a participating site for the registry?
    • You will need to obtain informed consent from each patient
    • Once this is obtained the central site will provide a de-identified number and information to logon to PDE redcap
    • You will only be able to access your own patients’ data
    • Data entry should be done by you / your group; the Central Coordinating Site will provide training and support for this.
  • How is data entered into the registry?
    Data collection for the registry is done online using the web based RedCap database. Data entry should begin only after obtaining informed consent from each patient. User credential and login information will be provided to you. Only de-identified information will be entered. Data from each participating site is separated, so you will only be able to view data on your patients, and no other site will be able to see your patients' data.
  • How long does it take to and how frequently do I have to enter the data?
    The database is structured based on recommendations for monitoring from the PDE Consortium. Data collection is prospective and longitudinal. You will enter data each time the study participant visits you. It takes about 30-45 min per patient depending the type of visit and the number of assessments performed.
  • Benefits of participating in the registry?
    • You will join the international PDE consortium
    • You will be part of a global network of healthcare professionals treating PDE. And contribute to advancing research and care for this metabolic epilepsy
    • Receive regular updates on current standards for treatment, monitoring and managing PDE patients
    • Access to the dataset to perform your own independent research upon approval from steering committee
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Principal Investigator:
  • Dr. Clara van Karnebeek, BC Children’s Hospital, University of British Columbia, Vancouver, Canada (Lead Canada)
Co-Principal Investigators:
  • Mr. Sravan Jaggumantri, BC Children’s Hospital, University of British Columbia, Vancouver, Canada (Global Project Coordinator)
  • Dr. Levinus Bok, Máxima Medical Center, Veldhoven, The Netherlands (Lead Europe)
  • Dr. Emma Foottit, UCL Institute of Child Health, London, United Kingdom (Lead UK)
  • Dr. Sidney M. Gospe, Seattle Children’s Hospital, Seattle, USA (Lead U.S.A)
  • Dr. Curtis Coughlin III, Children's Hospital Colorado, University of Colorado, Denver, USA (Lead U.S.A)
Download consent form
Download assent form 7-13yr
Download assent form 14-18yr
Download PDE registry protocol

Interested to join and be a member of the growing global community of leading PDE researchers?

Contact us and we’ll forward your request to the principal investigator in your region.
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Contact us: ObscureMyEmail

This initiative is part of a larger project titled the ‘Treatable Intellectual Disability Endeavour in British Columbia’ (TIDE-BC). It is the aim of this project to create a Best Care Practice to enhance diagnosis and treatment of rare diseases such as PDE and the more than 80 other treatable inborn errors of metabolism which cause intellectual disability and/or epilepsy.
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