Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy

January 15, 2024 updated by: Centre Hospitalier Universitaire de Saint Etienne
SYN1 gene mutation is an X-linked gene mutation that causes numerous pathological manifestations such as seizures and neurodevelopmental disorders. A few descriptions of this disease have been published in the last decade, but the electro-clinical features of epilepsy are still largely unknown. No analysis of electroencephalographic connectivity has yet been performed. The aim of this study is to perform a detailed electro-clinical seizure analysis and electroencephalographic analysis in patients with a SYN1 gene mutation, in an attempt to identify a characteristic pattern that would allow earlier diagnosis and better understanding and management of this disease.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

75

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Saint-Étienne, France, 42000
        • Chu Saint Etienne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

SYN1 gene mutation patients and controls

Description

Inclusion Criteria:

  • Cases : SYN1 gene mutation, available electroencephalographic and clinical data.
  • Controls : older than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as normal, no neurological disease (particularly no epilepsy), no neuroimaging abnormality.

Exclusion Criteria:

- Controls : younger than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as abnormal, neurological disease (particularly epilepsy), neuroimaging abnormality.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Arm 1
cases with SYN1 gene mutation
Other: Electro-clinical analysis of epileptic seizures
Electro-clinical analysis of epileptic seizures
Other: Electro-encephalographic cases
Electro-encephalographic connectivity analysis compared to controls
Other: Clinical datas analysis
Clinical datas analysis
Arm 2
control cases
Other: Electro-encephalographic control
Electro-encephalographic connectivity analysis compared to cases

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Electroencephalographic functional connectivity mapping
Time Frame: Month 6
Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy
Month 6

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Electroencephalographic reading grid
Time Frame: Month 6
Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls
Month 6

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire de Saint Etienne

Investigators

  • Principal Investigator: Laure MAZZOLA, MD, Chu Saint Etienne

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2023

Primary Completion (Actual)

October 31, 2023

Study Completion (Actual)

October 31, 2023

Study Registration Dates

First Submitted

December 12, 2023

First Submitted That Met QC Criteria

January 15, 2024

First Posted (Actual)

January 25, 2024

Study Record Updates

Last Update Posted (Actual)

January 25, 2024

Last Update Submitted That Met QC Criteria

January 15, 2024

Last Verified

July 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRBN662023/CHUSTE

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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