Developmental and Epileptic EncephalopathyDEE-RETRONCT06380192
Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
An observational study of Developmental and Epileptic Encephalopathy, run by Imagine Institute at 23 sites in France.
Trial summary
Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Developmental and Epileptic Encephalopathy
- How many people
- 400 participants
- Where
- 23 sitesFrance
- Study dates
- 31 Oct 2024to 31 Dec 2026
- 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: Patient diagnosed with developmental encephalopathy and epilepsy.
Who may be able to join
- Diagnosis of Developmental and Epileptic Encephalopathy
- Registered with or benefiting from a social security scheme.
Who cannot join
- Opposition of the patient or his/her parents to the re-use of data in the context of this study
- Person subject to a safeguard of justice measure
Trial locations and contacts
23 sites in 1 country. Contact the study team or a site near you to ask about taking part.
23 sites in 1 country
France23 sites, 23 recruiting
- Not yet recruiting
CHU Amiens
Amiens
William Szurhaj, Pr, Szurhaj.William@chu-amiens.fr
William Szurhaj, Pr
- Not yet recruiting
CH Angers
Angers
Patrick Van Bogaert, Pr, Patrick.VanBogaert@chu-angers.fr
Patrick Van Bogaert, Pr
- Not yet recruiting
Chu Besancon
Besançon
Cécilia Altuzala, Dr, Caltuzala@chu-besancon.fr
Cécilia Altuzala, Dr
- Not yet recruiting
CHU Bordeaux
Bordeaux
Frédéric Villéga, Dr, frederic.villega@chu-bordeaux.fr
Frédéric Villéga, Dr
- Not yet recruiting
CHRU Brest
Brest
Jérémie Lefranc, Dr, jeremie.lefranc@chu-brest.fr
Jérémie Lefranc, Dr
- Not yet recruiting
CHU Clermont-Ferrand
Clermont-Ferrand
Gaëlle REMERAND, Dr, gremerand@chu-clermontferrand.fr
Gaëlle REMERAND, Dr
- Not yet recruiting
CHU Grenoble
Grenoble
Fanny Dubois, Dr, +33 (0)4 76 76 57 03, fdubois@chu-grenoble.fr
Fanny Dubois, Dr
- Not yet recruiting
CHU Lille
Lille
Sylvie NGUYEN THE TICH, Pr, sylvie.nguyenthetich@chu-lille.fr
Sylvie NGUYEN THE TICH, Pr
- Not yet recruiting
CHU Limoges
Limoges
Cécile Laroche, Dr, Cecile.laroche@chu-limoges.fr
Cécile Laroche, Dr
- Not yet recruiting
CHU Lyon HCL
Lyon
Dorothee Ville, Dr, dorothee.ville@chu-lyon.fr
Dorothee Ville, Dr
- Not yet recruiting
Assistance Publique Hopitaux de Marseille
Marseille
Mathieu Milh, Pr, Mathieu.MILH@ap-hm.fr
Mathieu Milh, Pr
- Not yet recruiting
CHU de Nancy
Nancy
Mathieu Kuchenbuch, Dr, m.kuchenbuch@chru-nancy.fr
Mathieu Kuchenbuch, Dr
- Not yet recruiting
Hopitaux Pediatriques de Nice CHU Lenval
Nice
Julien NEVEU, Dr, +33 (0)4 92 03 03 92, julien.neveu@hpu.lenval.com
Julien NEUVEU, Dr
- Recruiting
Necker-Enfants Malades Hospital
Paris, 75015
Rima Nabbout, Pr, +33 (0)1 44381536, rima.nabbout@aphp.fr
Rima Nabbout, Pr
- Not yet recruiting
CHU Pitié Salpétrière
Paris
Vincent Navarro, Pr, Vincent.navarro@aphp.fr
Vincent Navarro, Pr
- Not yet recruiting
CHU Robert Debré
Paris
Stephane Auvin, Pr, Stephane.auvin@aphp.fr
Stephane Auvin, Pr
- Not yet recruiting
Hôpital Armand Trousseau
Paris
Cyril MIGNOT, Dr, cyril.mignot@aphp.fr
Cyril MIGNOT, Dr
- Not yet recruiting
Chu Reims
Reims
Melanie JENNESSON, Dr, mjennesson-lyver@chu-reims.fr
Melanie JENNESSON, Dr
- Not yet recruiting
CHU Rennes
Rennes
Sylvia Napuri-peirano, Dr, Silviaadriana.NAPURI.PEIRANO@chu-rennes.fr
Sylvia Napuri-peirano, Dr
- Not yet recruiting
CHU Strasbourg
Strasbourg
Anne De Saint Martin, Dr, +33 (0)3 88 12 83 98, anne.desaintmartin@chru-strasbourg.fr
Anne De Saint Martin, Dr
- Not yet recruiting
CHU Toulouse
Toulouse
Caroline HACHON-LE CAMUS, Dr, hachonlecamus.c@chu-toulouse.fr
Caroline HACHON-LE CAMUS, Dr
- Not yet recruiting
CHRU Tours
Tours
Maximilien PERIVIER, Dr, m.perivier@chu-tours.fr
Maximilien PERVIER, Dr
- Not yet recruiting
Hôpital André Mignot (CH Versailles)
Versailles
Samer WEHBI, Dr, swehbi@ch-versailles.fr
Samer WEHBI, Dr
About this study
Official title: Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data / DEE-RETRO
Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.
The creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patient | Patient inclusion criteria: * Diagnosis of developmental and epileptic encephalopathies * Affiliation with, or beneficiary of, a social security scheme Criteria for non-inclusion of patients: * Opposition of the patient or his/her parents in the case of minors to the re-use of data for this study. * Persons subject to a safeguard of justice measure | |
| Control patient | Inclusion criteria for controls: * Patients who, as part of their routine health care, require an EEG examination * Patients with sufficient follow-up to rule out a diagnosis of epilepsy, including developmental and epileptic encephalopathies * Enrolled in or receiving social security benefits Criteria for non-inclusion of controls : * Patient with a neurological or extra-neurological disease that may have an impact on the child's neurological development and outcome * Opposition of the patient or his/her parents to the re-use of data for this study * Persons subject to a safeguard of justice measure |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies
This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables)
Measured: Data 2002-2026
Secondary outcomes (5)
Identification of patient subgroups presenting the identified biomarkers
To identify patient subgroups, correlation analyses will be carried out to highlight any common clinical, biological, genetic, radiological and electroencephalographic findings.
Measured: Data 2002-2026
Assessment of patients' quality of life
The SF-12 questionnaire is used to assess quality of life.
Measured: Data 2002-2026
Assessment of age-related adaptive behavior
To assess the age of adaptive behavior, the Vineland II scale is the reference test.
Measured: Data 2002-2026
Assessment of behavioral disorders
The CBCL (Child Behaviour Checklist) questionnaire is the reference test for assessing behavioural problems.
Measured: Data 2002-2026
Assessment of autism spectrum disorders
The Social Communication Questionnaire (SCQ) will be used to assess autism spectrum disorders.
Measured: Data 2002-2026
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2024
- Study start31 Oct 2024
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Developmental and Epileptic EncephalopathyStudies 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
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06380192
- Sponsor's protocol ID
- HJ22-DEE-RETRO
- Acronym
- DEE-RETRO
- Status last verified
- Jun 2025
- First submitted
- 28 Mar 2024
- Last updated
- 29 Jun 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data / DEE-RETRO
- ClinicalTrials.gov ID
- NCT06380192
- Acronym / sponsor ID
- DEE-RETRO / HJ22-DEE-RETRO
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 31 Oct 2024 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 23 Apr 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.
Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.
The creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient | – | –Patient inclusion criteria: * Diagnosis of developmental and epileptic encephalopathies * Affiliation with, or beneficiary of, a social security scheme Criteria for non-inclusion of patients: * Opposition of the patient or his/her parents in the case of minors to the re-use of data for this study. * Persons subject to a safeguard of justice measure |
| Control patient | – | –Inclusion criteria for controls: * Patients who, as part of their routine health care, require an EEG examination * Patients with sufficient follow-up to rule out a diagnosis of epilepsy, including developmental and epileptic encephalopathies * Enrolled in or receiving social security benefits Criteria for non-inclusion of controls : * Patient with a neurological or extra-neurological disease that may have an impact on the child's neurological development and outcome * Opposition of the patient or his/her parents to the re-use of data for this study * Persons subject to a safeguard of justice measure |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient diagnosed with developmental encephalopathy and epilepsy.
Key inclusion criteria (2 listed)
- Diagnosis of Developmental and Epileptic Encephalopathy
- Registered with or benefiting from a social security scheme.
Key exclusion criteria (2 listed)
- Opposition of the patient or his/her parents to the re-use of data in the context of this study
- Person subject to a safeguard of justice measure
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies
Time frame: Data 2002-2026
This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables)
5 secondary outcomes
Identification of patient subgroups presenting the identified biomarkers
Time frame: Data 2002-2026
Assessment of patients' quality of life
Time frame: Data 2002-2026
Assessment of age-related adaptive behavior
Time frame: Data 2002-2026
Assessment of behavioral disorders
Time frame: Data 2002-2026
Assessment of autism spectrum disorders
Time frame: Data 2002-2026
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 29 Jun 2025.
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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.
23 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Developmental and Epileptic Encephalopathy, run by Imagine Institute at 23 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 2 inclusion and 2 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 29 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 23 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 Rima Nabbout, Pr (+33144381536, rima.nabbout@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies (time frame: Data 2002-2026). 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 29 Jun 2025; AzTrials last refreshed its copy on 26 Oct 2026.