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

NCT05193890 | Completed

• 1 other identifier: 2021PI127.
• Study Type: observational
• Target: 69
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Epilepsy; Intellectual Disability

Outcome Measures

Primary Outcomes (1)

• determine the pourcentage of positive résults using our epilepsy and intellectual disability panel

  the pourcentage of positive résultats after the panel analysis

  2 years

Secondary Outcomes (1)

• evaluation of supplementary positive results of the CES

  2 years

Study Arms (3)

Epilepsy only

Epilepsy only patients who underwent our gene panel and the Clinical exome Solution

Genetic: retrospective analysis of a panel result

Intelectual Disability only

Intelectual Disability only patients who underwent our gene panel and the Clinical exome Solution

Genetic: retrospective analysis of a panel result

Epilepsy and Intelectual Disability

Intelectual Disability and Epilepsy patients who underwent our gene panel and the Clinical exome Solution

Genetic: retrospective analysis of a panel result

Interventions

retrospective analysis of a panel result GENETIC

retrospective analysis of a exome clinical solution

Epilepsy and Intelectual Disability; Epilepsy only; Intelectual Disability only

Eligibility Criteria

• Age: 1 Day - 17 Years
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Of the 69 patients included in the study, the majority were boys, 62.3% (43 patients) and 37.7% were girls (26 patients). This difference is most pronounced in the subcategory of patients with intellectual disabilities, with a sex ratio of approximately 1:2,3. The median age of the population at inclusion was 5 years \[2.2-17\]. From the total of 69 patients included in our study, the majority beneficiated of the gene panel for their intellectual disability (37 patients i.e. 53.6%), 13 for their epilepsy (18.8% of the patients) and 19 patients had both (i.e. 27.5%).

You may qualify if:

• We included in our study all pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel between June 2019 and May 2021. All of these patients were either epileptic or had intellectual disability, or both, of undetermined or genetic presumed etiology.

You may not qualify if:

• We excluded i) patients older than 18 years, ii) those for whom the indication for genetic analysis was not epilepsy or intellectual disability iii) patients not followed up at the Regional University Hospital Center of Nancy, France.

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Study Sites (1)

Calina Todosi

Vandœuvre-lès-Nancy, 54500, France

Location

MeSH Terms

Conditions

Epilepsy; Intellectual Disability

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, Pediatric Neurology

Study Record Dates

• First Submitted: September 14, 2021
• First Posted: January 18, 2022
• Study Start: June 1, 2019
• Primary Completion: May 31, 2021
• Study Completion: May 31, 2021
• Last Updated: January 18, 2022

Record last verified: 2022-01

Locations

FR (1)