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

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.

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Key information

Conditions

Epileptic Encephalopathy of Unindentified Genetic Origin

Sex eligibility

All sexes

Study type

Observational

Primary location

Chu Dijon Bourogne

Dijon, 21000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Diagnosis of epileptic encephalopathy, defined by the clinical association of epilepsy and a significant delay in acquisition
Family case with recurrence in siblings, suggesting autosomal recessive transmission or X-linked inheritance (with or without parental consanguinity), or sporadic case resulting from inbreeding.
Lack of etiologic orientation based on clinical examination.
Normal routine diagnostic genetic examinations including a metabolic check-up, array CGH analysis.
Brain imaging which does not suggest an acquired cause.

Exclusion criteria

Unavailable parental samples
Diagnostic orientation from one of the tests mentioned above
Brain imaging suggesting anoxia sequelae

Treatment and study plan

Primary outcomes

Number of diagnoses performed with high throughput ES

Time frame: Through study completion, an average of 1 year.

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: SHD-EE

Important dates

Study start: 2013
Primary completion: 2014
Study completion: 2014
First posted: Aug 29, 2018
Registry last updated: Mar 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.