Epileptic EncephalopathyIMPROVENCT04802135
Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
An observational study of Epileptic Encephalopathy, run by Assistance Publique Hopitaux De Marseille at 15 sites in France.
Trial summary
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Epileptic Encephalopathy
- What is being tested?
- Survey
- How many people
- 200 participants
- Where
- 15 sitesFrance
- Study dates
- 6 Mar 2021to Sep 2032
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Retrospective observational study initially then prospective with inclusion of all patients with a KCNQ2-REE whose diagnosis was made in the EPIGENE network
Who may be able to join
- Epilepsy beginning before 1 month of life, and requiring the initiation of anti-epileptic treatment
- Without occasional cause
- Without brain malformation explaining epilepsy
- No opposition from parents / guardians
- Possibility for parents to complete parent questionnaires
Who cannot join
- Neonatal attacks of occasional cause (glycemic disorder, infection, etc.)
- Acquired neonatal epilepsy (post-anoxic encephalopathy, stroke sequelae, etc.)
- Neonatal epilepsy related to a brain malformation
Trial locations and contacts
15 sites in 1 country. Contact the study team or a site near you to ask about taking part.
15 sites in 1 country
France15 sites, 15 recruiting
- Not yet recruiting
CHU Angers
Angers
Patrick Van Bogaert
- Not yet recruiting
CHU Bordeaux
Bordeaux
Jean-Michel Pedespan
- Not yet recruiting
CHU Brest
Brest
Jérémie Lefranc
- Not yet recruiting
CHRU Lille
Lille
Sylvie Nguyen
- Not yet recruiting
CHU Limoges
Limoges
Cécile Laroche
- Not yet recruiting
Hospices Civils Lyon
Lyon
Gaetan Lesca
Dorthée Ville
- Recruiting
Hôpital La Timone
Marseille, 13005
Mathieu Milh, 0491322903 ext. 33, mathieu.milh@ap-hm.fr
- Not yet recruiting
CHU Montpellier
Montpellier
Agathe Roubertie
- Recruiting
APHP Pitié Salpêtrière
Paris
Cyril Mignot
- Not yet recruiting
APHP Robert Debré
Paris
Stéphane Auvin
- Not yet recruiting
Hôpital Necker
Paris
Rima Nabbout, rima.nabbout@ap-hm.fr
- Not yet recruiting
CHU Rennes
Rennes
Sylvia Napuri
- Not yet recruiting
CHRU Strasbourg
Strasbourg
Anne De Saint Martin
- Not yet recruiting
CHU Toulouse
Toulouse
Claude Cances
- Not yet recruiting
CHU Tours
Tours
Marie-Anne Barthez
About this study
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills.
There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition.
Read more
KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia.
The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies.
This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.
- Conditions
- Epileptic Encephalopathy
- Being tested
- Survey
- Keywords
- EOEE, epilepsy, KCNQ2
- Medical subject headings
- Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SurveyOther
directive questionnaire administered during an individual face-to-face interview
What is being measured
The primary outcome is the main question the study is designed to answer.
importance of the developmental disorder
Developmental quotient
Measured: Month 36
definition of the active phase of epilepsy
Presence of at least monthly seizures and interictal EEG showing paroxysmal abnormalities
Measured: Month 36
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2021
- Study start6 Mar 2021
- Primary completionSep 2029 (estimated)
- Study completionSep 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Epileptic EncephalopathyStudies of the same condition, open and under way.
- More trials run by Assistance Publique Hopitaux De MarseilleThe 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
- Other
- Enrolment
- 200 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jean Olivier Arnaud, Study director, Assistance Publique - Hôpitaux de Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04802135
- Sponsor's protocol ID
- 2019-51
- Other IDs
- ID-RCB
- Acronym
- IMPROVE
- Status last verified
- Nov 2025
- First submitted
- 14 Mar 2021
- Last updated
- 20 Nov 2025
- 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 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
- ClinicalTrials.gov ID
- NCT04802135
- Acronym / sponsor ID
- IMPROVE / 2019-51
- Conditions
- Epileptic Encephalopathy
- Keywords
- EOEE, epilepsy, KCNQ2
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 6 Mar 2021 (actual)
- Primary completion
- Sep 2029 (estimated)
- Study completion
- Sep 2032 (estimated)
- First posted
- 17 Mar 2021 (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.
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills.
There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition.
KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia.
The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies.
This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 3 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Retrospective observational study initially then prospective with inclusion of all patients with a KCNQ2-REE whose diagnosis was made in the EPIGENE network
Key inclusion criteria (5 listed)
- Epilepsy beginning before 1 month of life, and requiring the initiation of anti-epileptic treatment
- Without occasional cause
- Without brain malformation explaining epilepsy
- No opposition from parents / guardians
- Possibility for parents to complete parent questionnaires
Key exclusion criteria (3 listed)
- Neonatal attacks of occasional cause (glycemic disorder, infection, etc.)
- Acquired neonatal epilepsy (post-anoxic encephalopathy, stroke sequelae, etc.)
- Neonatal epilepsy related to a brain malformation
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 |
|---|---|---|
| Surveydirective questionnaire administered during an individual face-to-face interview | Other | – |
Primary outcome
importance of the developmental disorder
Time frame: Month 36
Developmental quotient
definition of the active phase of epilepsy
Time frame: Month 36
Presence of at least monthly seizures and interictal EEG showing paroxysmal abnormalities
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2025.
- Individual participant dataSharing planned: No
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A First-in-human Study of S230815 in Pediatric Participants With KCNT1-related Developmental and Epileptic Encephalopathy
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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.
Jean Olivier Arnaud study director
Assistance Publique - Hôpitaux de Marseille
15 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epileptic Encephalopathy, run by Assistance Publique Hopitaux De Marseille at 15 sites 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 5 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 20 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mathieu Milh (0491322903 ext. 33, mathieu.milh@ap-hm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
importance of the developmental disorder (time frame: Month 36). The study lists 2 primary outcomes in all. 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 20 Nov 2025; AzTrials last refreshed its copy on 8 Nov 2026.