Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

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)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03652246
Recruitment Status : Completed
First Posted : August 29, 2018
Last Update Posted : August 29, 2018
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Brief 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.


Condition or disease
Epileptic Encephalopathy of Unindentified Genetic Origin

Layout table for study information
Study Type : Observational
Actual Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Other
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

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. Number of diagnoses performed with high throughput ES [ Time Frame: Through study completion, an average of 1 year. ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patient in consultation
Criteria

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

Information from the National Library of Medicine

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


Locations
Layout table for location information
France
Chu Dijon Bourogne
Dijon, France, 21000
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon

Layout table for additonal information
Responsible Party: Centre Hospitalier Universitaire Dijon
ClinicalTrials.gov Identifier: NCT03652246    
Other Study ID Numbers: Masurel-Thevenon AOI 2013
First Posted: August 29, 2018    Key Record Dates
Last Update Posted: August 29, 2018
Last Verified: August 2018

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases