Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling (SHD-EE)
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|ClinicalTrials.gov Identifier: NCT03652246|
Recruitment Status : Completed
First Posted : August 29, 2018
Last Update Posted : August 29, 2018
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.
|Condition or disease|
|Epileptic Encephalopathy of Unindentified Genetic Origin|
|Study Type :||Observational|
|Actual Enrollment :||15 participants|
|Official Title:||Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling|
|Actual Study Start Date :||September 2013|
|Actual Primary Completion Date :||September 2014|
|Actual Study Completion Date :||December 2014|
- Number of diagnoses performed with high throughput ES [ Time Frame: Through study completion, an average of 1 year. ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03652246
|Chu Dijon Bourogne|
|Dijon, France, 21000|