Epileptic SyndromesNCT06222840
Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
An observational study of Epileptic Syndromes, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Epileptic Syndromes
- What is being tested?
- Electro-clinical analysis of epileptic seizures, Electro-encephalographic cases and Clinical datas analysis
- How many people
- 75 participants
- Where
- 1 siteFrance
- Study dates
- 1 Apr 2023to 31 Oct 2023
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: SYN1 gene mutation patients and controls
Who may be able to join
- 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.
Who cannot join
- Controls : younger than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as abnormal, neurological disease (particularly epilepsy), neuroimaging abnormality.
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Epileptic Syndromes
- Being tested
- Electro-clinical analysis of epileptic seizures, Electro-encephalographic cases, Clinical datas analysis, Electro-encephalographic control
- Keywords
- SYN1 mutation, reflex bathing epilepsy, neurodevelopmental disorders, connectivity analysis, electro-encephalographic seizure pattern
- Medical subject headings
- Epileptic Syndromes, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electro-clinical analysis of epileptic seizuresOther
Electro-clinical analysis of epileptic seizures
Electro-encephalographic casesOther
Electro-encephalographic connectivity analysis compared to controls
Clinical datas analysisOther
Clinical datas analysis
Electro-encephalographic controlOther
Electro-encephalographic connectivity analysis compared to cases
| Study group | Role | What they receive |
|---|---|---|
| Arm 1 | cases with SYN1 gene mutation Receives: Other: Electro-clinical analysis of epileptic seizures; Other: Electro-encephalographic cases; Other: Clinical datas analysis | |
| Arm 2 | control cases Receives: Other: Electro-encephalographic control |
What is being measured
The primary outcome is the main question the study is designed to answer.
Electroencephalographic functional connectivity mapping
Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy
Measured: Month 6
Secondary outcomes (1)
Electroencephalographic reading grid
Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls
Measured: Month 6
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jan 2024
- Study start1 Apr 2023
- Primary completion31 Oct 2023
- Study completion31 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Epileptic SyndromesStudies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 75 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Saint Etienne
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Laure MAZZOLA, MD, Principal investigator, Centre Hospitalier Universitaire de Saint Etienne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06222840
- Sponsor's protocol ID
- IRBN662023/CHUSTE
- Status last verified
- Jul 2023
- First submitted
- 12 Dec 2023
- Last updated
- 25 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
- ClinicalTrials.gov ID
- NCT06222840
- Acronym / sponsor ID
- IRBN662023/CHUSTE
- Conditions
- Epileptic Syndromes
- Keywords
- SYN1 mutation, reflex bathing epilepsy, neurodevelopmental disorders, connectivity analysis, electro-encephalographic seizure pattern
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 75 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Study start
- 1 Apr 2023 (actual)
- Primary completion
- 31 Oct 2023 (actual)
- Study completion
- 31 Oct 2023 (actual)
- First posted
- 25 Jan 2024 (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.
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 design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Arm 1 | – | Other: Electro-clinical analysis of epileptic seizures, Other: Electro-encephalographic cases, Other: Clinical datas analysiscases with SYN1 gene mutation |
| Arm 2 | – | Other: Electro-encephalographic controlcontrol cases |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- SYN1 gene mutation patients and controls
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- Controls : younger than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as abnormal, neurological disease (particularly epilepsy), neuroimaging abnormality.
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 |
|---|---|---|
| Electro-clinical analysis of epileptic seizuresElectro-clinical analysis of epileptic seizures | Other | Arm 1 |
| Electro-encephalographic casesElectro-encephalographic connectivity analysis compared to controls | Other | Arm 1 |
| Clinical datas analysisClinical datas analysis | Other | Arm 1 |
| Electro-encephalographic controlElectro-encephalographic connectivity analysis compared to cases | Other | Arm 2 |
Primary outcome
Electroencephalographic functional connectivity mapping
Time frame: Month 6
Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy
1 secondary outcome
Electroencephalographic reading grid
Time frame: Month 6
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 25 Jan 2024.
- Individual participant dataSharing planned: No
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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.
Laure MAZZOLA, MD principal investigator
Centre Hospitalier Universitaire de Saint Etienne
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 Epileptic Syndromes, run by Centre Hospitalier Universitaire de Saint Etienne 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 2 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 25 Jan 2024. 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?
Electroencephalographic functional connectivity mapping (time frame: Month 6). 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 25 Jan 2024.