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

Epileptic Encephalopathy of Unindentified Genetic Origin Clinical Trial

— SHD-EE  

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03652246
• Other study ID #: Masurel-Thevenon AOI 2013
• Status: Completed
• Start date: September 2013
• Est. completion date: December 2014

Study information

• Verified date: August 2018
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 15
• Est. completion date: December 2014
• Est. primary completion date: September 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Brain Diseases
• Epileptic Encephalopathy of Unindentified Genetic Origin

Locations

Country	Name	City	State
France	Chu Dijon Bourogne	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of diagnoses performed with high throughput ES		Through study completion, an average of 1 year.