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Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling

NCT03652246 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2026-03-12

No results posted yet for this study

Summary

Congenital epileptic encephalopathies (EE) are predominantly genetic in origin. Their diagnosis is hampered by the large number of genes involved and their low recurrence. Genetic study in routine diagnosis is limited by the existing techniques and the development costs. The routine diagnostic implementation of high throughput sequencing pushes these limits. High throughput exome sequencing (ES) showed superior diagnostic performance in all diagnostic settings studied.

This pilot study is dedicated to evaluating the diagnostic performance of high throughput ES in EE, with an implementation and analysis strategy allowing for a direct transfer to routine diagnostics. This novel approach should improve the diagnostic rate while reducing the diagnostic cost per patient.

Conditions

  • Epileptic Encephalopathy of Unindentified Genetic Origin

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-09-30
Primary Completion
2014-09-30
Completion
2014-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03652246 on ClinicalTrials.gov