NCT05193890

Using Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in a Pediatric Cohorte

Completed Last updated 18 January 2022

What this trial tests

trial testing retrospective analysis of a panel result in Epilepsy in 69 participants. Completed in 31 May 2021.

Timeline

1 June 2019

Primary endpoint
31 May 2021

31 May 2021

Quick facts

Lead sponsor	Central Hospital, Nancy, France
Status	Completed
Study type	OBSERVATIONAL
Enrollment	69
Start date	1 June 2019
Primary completion	31 May 2021
Estimated completion	31 May 2021
Sites	1 location across France

Drugs / interventions tested

• retrospective analysis of a panel result

Conditions studied

• Epilepsy — all drugs for Epilepsy →
• Intellectual Disability — all drugs for Intellectual Disability →

Sponsor

Central Hospital, Nancy, France

Who can join

Adults 1 Day to 17, any sex, with Epilepsy or Intellectual Disability. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

ABSTRACT

Background and Aims:

To determine the diagnostic performance of the epilepsy and intellectual disability panel used in the pediatric population, starting in June 2019, at the Regional University Hospital Center of Nancy, France.

Design:

An observational and retrospective study, at the Regional University Hospital Center of Nancy, France.

Materials and Methods:

Pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel. All of these patients were either epileptic or had intellectual disability, or both, of undetermined etiology.

Results:

We included 69 patients in this study. We identified causative mutations in 46.4% (32 of 69 patients) of this cohort after the gene panel and 52.2% (36 patients) including positive results after realization of the Clinical Exome Solution.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.