Dravet Syndrome Patient Registries & Why We Need Them

An international Dravet syndrome registry will aid in the understanding of this rare epileptic encphalopathy.

Scientific Questions for the Ds Registry

  • What is the natural course of Ds?
  • What is the natural course of Ds?
  • Do consistent genotypes/phenotype correlations exist?
  • How does appropriate and aggressive seizure control affect the intellectual and behavioral outcome?
  • How doe clinical practices vary?
  • What are significant predictors of poor outcome?
  • What co-morbid conditions are associated with Ds?
  • Do other neurologic diseases exist in families of children with Ds?
  • Which  therapeutic agents provide the best seizure control?

    • Materials & Methods

  • Online questionnaire developed through Windows Vista Vanguard software
  • Participants identified through IDEA league family forum
  • Questionnaire launched for beta testing; parents consented

    • Results
    Beta testing of this simple registry yielded trends including co-morbid conditions, average age of diagnosis, drugs that improve or worsen the condition, variation of “acceptable” seizure control, and parent understanding of medical questions.

    Conclusion
    USF has many years experience in registry development, the design and development of collaborative research involving genotype-phenotype analysis, and serves as the Data and Technology Coordinating Center for the NIH-funded Rare Diseases Clinical Research Network, which includes the Consortium for the clinical investigations of physicians and patients for the sake of neurological channelopathies.

    Three systems will be developed:

  • The contract registry is an administrative registry used for automated announcement and matching to research opportunities.
  • The patient registry will collect data from parents.
  • The physician registry will collect data from child neurologists who treat children with Dravet syndrome an are experts in the field.

    • Governance and procedures committee is needed to establish scientific review and governance process.  We need the input of the Ds scientific community to move forward.

    Dravet syndrome Solving the Puzzle Chart

    Dravet syndrome Solving the Puzzle