European Non-interventional Study on Refractory Epilepsy With Developmental Delay

A European Non-interventional Study to Understand the Criteria Used and the Time Required for the Clinical Diagnosis in Participants With Refractory Epilepsies Associated With Developmental Delay

This is a multinational, multicentre, non-interventional, retrospective data collection (manual Medical Chart Review).

Study Overview

• Status: Terminated
• Conditions: Refractory Epilepsy; Development Delay

Detailed Description

This is a multinational, multicentre, non-interventional, retrospective data collection (manual Medical Chart Review). The identified local site staff (or trained independent data abstractors, if requested by the site) will review the medical records of all participants meeting the eligibility criteria, who have provided a signed inform consent form (ICF) for data collection and analysis. For participants who are less than 18 years of age, in addition to the assent form being signed by the participant, an informed consent would be obtained from parental or legally authorized representative.

In line with the retrospective nature of the study: there is no assignment of a participant to a particular therapeutic strategy; no additional diagnostic or monitoring procedures shall be applied to the participants; epidemiological methods shall be used for the analysis of collected data; the prescription of any medication for the treatment of the epileptic syndrome occur before the collection of the data in this study and is clearly separated from the decision to include the participant in the study.

• Study Type: Observational
• Enrollment (Actual): 93

Contacts and Locations

Study Locations

• France
  • Angers, France
    • Unité de neuropédiatrie, CHU Angers
  • La Force, France
    • Department of Neurology - Foundation John Bost
  • Paris, France
    • Hospital St Louis DRCI, CHU Bicêtre
• Germany
  • Berlin, Germany
    • Charité - Universitätsmedizin Berlin
  • Berlin, Germany
    • Institut der Diagnostik der Epilepsien
  • Berlin, Germany
    • Zentrum für Sozialpädiatrie und Neuropädiatrie (DBZ), Vivantes Klinikum
  • Bielefeld, Germany
    • Gesellschaft für Epilepsieforschung e. V.
  • Bonn, Germany
    • Klinik für Epileptologie, Universitätsklinikum Bonn
  • Frankfurt, Germany
    • Klinik Für Kinder- und Jugendmedizin, Neuropadiatrie und Epilepsiezentrum
  • Greifswald, Germany
    • Department of Neurology / Epileptology, University Medicine Greifswald
  • Kiel, Germany
    • Klinik für Kinder-und Jugendmedizin II, Universitätsklinikum Schleswig-Holstein
  • Kork, Germany
    • Epilepsiezentrum Kork
  • Köln, Germany
    • Klinik für Neurologie, Heilig Geist-Krankenhaus GmbH
  • Magdeburg, Germany
    • Department of Neurologie University of Magdeburg
  • Ravensburg, Germany
    • Abteilung für Epileptologie, ZfP Südwürttemberg
• Italy
  • Genova, Italy
    • I.R.C.C.S. Giannina Gaslini
  • Troina, Italy
    • Oasi Research Institute
• Spain
  • Barcelona, Spain
    • Hospital Vall d'Hebron
  • Madrid, Spain
    • Hospital Ruber Internacional

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Participants with rare epilepsy syndromes up to the date of the most recent visit at the study site.

Description

Inclusion Criteria:

• Age ≥2 years
• Disease history of at least 24 months from date of first seizure
• Medical history of epilepsy associated with moderate to severe intellectual disability, cognitive developmental delay or cognitive regression
• Medical history of onset of seizures in early childhood (≤ 8 years)
• Failure of adequate trials of two tolerated and appropriately chosen and used Anti-Epileptic Drug (AED) schedules (whether as monotherapies or in combination) to achieve sustained seizure freedom
• Ongoing refractory epilepsy
• MRI and EEG data are available for the participant
• Participants (or their parents/ legal representative as appropriate) have provided written informed consent / assent form to collect the data specified.

Exclusion Criteria:

• Normal cognitive development.
• Any acute symptomatic seizures in participants with underlying developmental delay.
• Any progressive intellectual and neurological deterioration conditions.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of Participants With and Without Diagnosis of an Epilepsy Syndrome	Understand the proportion of participants with and without diagnosis of an epilepsy syndrome, as described by the International League Against Epilepsy (ILAE) diagnostic manual located at https://www.epilepsydiagnosis.org/	5 months
Understand the Clinical Practice Criteria	Understand the clinical practice criteria used for specific syndromic diagnosis of participants with refractory epilepsy associated with developmental delay.	5 months
Clinical Practice Diagnostic Criteria Compared to ILAE	Compare clinical practice diagnostic criteria to those proposed by the ILAE and identify potential areas of educational need.	5 months
Understand the Time to Formal Diagnosis	Understand the time to diagnosis, from first seizure to formal diagnosis of a specific syndrome.	5 months
Unclassified Epilepsy	Evaluate if unclassified epilepsy can be grouped with common electroclinical phenotype features.	5 months

Collaborators and Investigators

• Sponsor: Zogenix, Inc.
• Collaborators: Zogenix International Limited, Inc., a subsidiary of Zogenix, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): March 14, 2019
• Primary Completion (Actual): September 4, 2020
• Study Completion (Actual): September 4, 2020

Study Registration Dates

• First Submitted: May 18, 2020
• First Submitted That Met QC Criteria: May 18, 2020
• First Posted (Actual): May 21, 2020

Study Record Updates

• Last Update Posted (Estimated): December 1, 2023
• Last Update Submitted That Met QC Criteria: November 30, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Observational; Retrospective
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy; Drug Resistant Epilepsy
• Other Study ID Numbers: 915-ENSURED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No