EpilepsyNCT05193890
Using Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in a Pediatric Cohorte
An observational study of Epilepsy and Intellectual Disability, run by Central Hospital, Nancy, France at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 17 years
- Conditions the study is for
- Epilepsy, Intellectual Disability
- What is being tested?
- retrospective analysis of a panel result
- How many people
- 69 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jun 2019to 31 May 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 17 years
- All sexes
- Child
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%).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The Performance of Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in the Pediatric Cohort of the Regional University Hospital Center of Nancy
ABSTRACT
Background and Aims:
Read more
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.
Read the detailed description
Epilepsy and intellectual disability are common and highly heterogeneous neurodevelopmental disorders in children. Their respective prevalence are 3.2 to 5.1/1000 (1,2) and 1.3 to 2.2% (3).
An epileptic seizure is due to abnormal excessive or synchronous neuronal activity. Epilepsy is defined by : (A) At least two unprovoked (or reflex) seizures occurring >24 h apart; or (B) one unprovoked (or reflex) seizure and a probability of further seizures at least 60% ; or (C) diagnosis of an epilepsy syndrome (4). Intellectual disability (ID) is defined by the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), as a significant limitation in intellectual functioning and adaptive behavior, which include conceptual, social, and practical skills, arising before age 18.
These two conditions can be caused by a variety of environmental and genetic factors, often combined, making the diagnosis difficult (5,6). Standard diagnostic approaches include biochemical and enzyme analysis for neurometabolic disorders, MRI brain imaging and genome-wide microarray analysis (7-9).
Because of the large variability of genotypic-phenotypic expression (a syndrome can have several genetic causes; the same gene can be expressed in different ways) and the huge genetic heterogeneity, the identification of the genes involved in these pathologies has long been difficult. In recent decades, considerable progress has been made in genetics, with the development of new technologies such as next-generation sequencing (NGS). These new techniques permit the sequencing of many genes at the same time, at an ever lower cost, allowing the use of these tests in clinical practice routine with gene panels, and even whole-exome or whole-genome sequencing (10). We now identified more than 1000 genes implicated in mechanisms of epilepsy and ID, with various pathways (11-16).
- Conditions
- Epilepsy, Intellectual Disability
- Being tested
- retrospective analysis of a panel result
- Medical subject headings
- Epilepsy, Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
retrospective analysis of a panel resultGenetic
retrospective analysis of a exome clinical solution
| Study group | Role | What they receive |
|---|---|---|
| Epilepsy only | Epilepsy only patients who underwent our gene panel and the Clinical exome Solution Receives: Genetic: retrospective analysis of a panel result | |
| Intelectual Disability only | Intelectual Disability only patients who underwent our gene panel and the Clinical exome Solution Receives: 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 Receives: Genetic: retrospective analysis of a panel result |
What is being measured
The primary outcome is the main question the study is designed to answer.
determine the pourcentage of positive résults using our epilepsy and intellectual disability panel
the pourcentage of positive résultats after the panel analysis
Measured: 2 years
Secondary outcomes (1)
evaluation of supplementary positive results of the CES
the pourcentage of positive résultats found using the CES and witch were negatif using the panel
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2022
- Study start1 Jun 2019
- Primary completion31 May 2021
- Study completion31 May 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for EpilepsyStudies of the same condition, open and under way.
- More trials run by Central Hospital, Nancy, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 69 participants (actual)
Sponsor and investigators
- Lead sponsor
- Central Hospital, Nancy, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, calina TODOSI, Central Hospital, Nancy, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05193890
- Sponsor's protocol ID
- 2021PI127.
- Status last verified
- Jan 2022
- First submitted
- 14 Sep 2021
- Last updated
- 18 Jan 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Performance of Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in the Pediatric Cohort of the Regional University Hospital Center of Nancy
- ClinicalTrials.gov ID
- NCT05193890
- Acronym / sponsor ID
- 2021PI127.
- Conditions
- Epilepsy, Intellectual Disability
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 69 participants (actual)
- Lead sponsor
- Central Hospital, Nancy, FranceUniversity, hospital or other
- Study start
- 1 Jun 2019 (actual)
- Primary completion
- 31 May 2021 (actual)
- Study completion
- 31 May 2021 (actual)
- First posted
- 18 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Epilepsy and intellectual disability are common and highly heterogeneous neurodevelopmental disorders in children. Their respective prevalence are 3.2 to 5.1/1000 (1,2) and 1.3 to 2.2% (3).
An epileptic seizure is due to abnormal excessive or synchronous neuronal activity. Epilepsy is defined by : (A) At least two unprovoked (or reflex) seizures occurring >24 h apart; or (B) one unprovoked (or reflex) seizure and a probability of further seizures at least 60% ; or (C) diagnosis of an epilepsy syndrome (4). Intellectual disability (ID) is defined by the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), as a significant limitation in intellectual functioning and adaptive behavior, which include conceptual, social, and practical skills, arising before age 18.
These two conditions can be caused by a variety of environmental and genetic factors, often combined, making the diagnosis difficult (5,6). Standard diagnostic approaches include biochemical and enzyme analysis for neurometabolic disorders, MRI brain imaging and genome-wide microarray analysis (7-9).
Because of the large variability of genotypic-phenotypic expression (a syndrome can have several genetic causes; the same gene can be expressed in different ways) and the huge genetic heterogeneity, the identification of the genes involved in these pathologies has long been difficult. In recent decades, considerable progress has been made in genetics, with the development of new technologies such as next-generation sequencing (NGS). These new techniques permit the sequencing of many genes at the same time, at an ever lower cost, allowing the use of these tests in clinical practice routine with gene panels, and even whole-exome or whole-genome sequencing (10). We now identified more than 1000 genes implicated in mechanisms of epilepsy and ID, with various pathways (11-16).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Epilepsy only | – | Genetic: retrospective analysis of a panel resultEpilepsy only patients who underwent our gene panel and the Clinical exome Solution |
| Intelectual Disability only | – | Genetic: retrospective analysis of a panel resultIntelectual Disability only patients who underwent our gene panel and the Clinical exome Solution |
| Epilepsy and Intelectual Disability | – | Genetic: retrospective analysis of a panel resultIntelectual Disability and Epilepsy patients who underwent our gene panel and the Clinical exome Solution |
Who may qualify
- Ages
- 1 day to 17 years
- Sex
- All
- Age groups
- Child
- 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%).
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| retrospective analysis of a panel resultretrospective analysis of a exome clinical solution | Genetic | Epilepsy and Intelectual Disability, Epilepsy only, Intelectual Disability only |
Primary outcome
determine the pourcentage of positive résults using our epilepsy and intellectual disability panel
Time frame: 2 years
the pourcentage of positive résultats after the panel analysis
1 secondary outcome
evaluation of supplementary positive results of the CES
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jan 2022.
Related trials for Epilepsy
Not yet recruiting
Clinical Trial of SEEG for Drug-resistant Epilepsy
Drug-Resistant Epilepsy
RecruitingPhase 3
Investigate Efficacy and Safety of Carisbamate as Adjunctive Treatment for Seizures Associated With LGS in Children and Adults
Seizures, Lennox Gastaut Syndrome
RecruitingPhase 3
Study Evaluating the Efficacy and Safety of RAP-219 in Adult Participants With Focal Seizures
Focal Seizure, Epilepsy
Active, not recruitingObservational study
Transforming Research and Clinical Knowledge in Traumatic Brain Injury Epileptogenesis Project (TRACK-TBI EPI)
Traumatic Brain Injury, Post-traumatic Epilepsy
RecruitingPhase 3
Study Evaluating the Efficacy and Safety of RAP-219 in Adult Participants With Focal Seizures FOCUS-1
Focal Seizure, Epilepsy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epilepsy and Intellectual Disability, run by Central Hospital, Nancy, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jan 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
determine the pourcentage of positive résults using our epilepsy and intellectual disability panel (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jan 2022.