Developmental and Epileptic Encephalopathies (DEE)MOBi-DEENCT07909382
Multi-biomarkers in DEE
An observational study of Developmental and Epileptic Encephalopathies (DEE), run by Istituto Giannina Gaslini at 14 sites in 8 countries.
Trial summary
Developmental and Epileptic Encephalopathies (DEEs) with a genetic cause represent a complex group of neurodevelopmental disorders characterized by intellectual disability and drug-resistant epilepsy. Read more about this study
- Who is it for?
- Ages 0 to 55 years
- Conditions the study is for
- Developmental and Epileptic Encephalopathies (DEE)
- How many people
- 200 participants
- Where
- 14 sitesin 8 countries
- Study dates
- 4 Jul 2024to Dec 2028
- 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 0 to 55 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with DEEs from several epilepsy sites
Who may be able to join
- For patients:
- Diagnosis of Developmental and Epileptic Encephalopathy with proven genetic etiology report;
- Informed consent from a parent/legal representative in case of inability to provide consent due to severe cognitive disability, and where required by age, informed assent.
- For controls:
- Presence of informed consent from the participant and/or their legal guardian, and where required by age, informed assent.
Who cannot join
- For patients:
- Lack of informed consent / assent.
- Diagnosis other than Developmental and Epileptic Encephalopathy with genetic etiology;
- Absence of genetic test report;
- Severe conditions requiring pharmacological polytherapy, in addition to antiseizure medications (e.g., kidney disease, heart disease, diabetes, oncological disease, etc.);
- Concomitant use, or use up to 1 month prior to sampling, of antibiotic medications.
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- For controls:
- Lack of informed consent / assent.
- Severe conditions requiring pharmacological polytherapy (e.g., kidney disease, heart disease, diabetes, oncological disease, etc.);
- Concomitant use, or use up to 3 months prior to sampling, of medications acting on the central nervous system;
- Concomitant use, or use up to 1 month prior to sampling, of antibiotic medications.
Trial locations and contacts
14 sites in 8 countries. Contact the study team or a site near you to ask about taking part.
14 sites in 8 countries
Italy7 sites, 7 recruiting
- Recruiting
IRCCS Istituto delle Scienze Neurologiche di Bologna
Bologna
Duccio Cordelli, +39 051 2144657, ducciomaria.cordelli@unibo.it
- Recruiting
Università di Catanzaro
Catanzaro
Emilio Russo, +39 0961 3697397, erusso@unicz.it
- Recruiting
Ospedale Pediatrico Meyer
Florence
Simona Balestrini, +39 055 5662573, simona.balestrini@meyer.it
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Pasquale Striano, MD, PHD, +3901056362758, pasqualestriano@gaslini.org
- Recruiting
Ospedale dei Bambini "Vittore Buzzi"
Milan
Pierangelo Veggiotti, +39 02 57995259, pierangelo.veggiotti@unimi.it
- Recruiting
Ospedale Pediatrico Bambino Gesù
Roma
Marina Trivisano, +39 06 6859 4101, marina.trivisano@opbg.net
- Recruiting
Policlinico Universitario Agostino Gemelli
Roma
Alessandro Ferretti, 0000, alessandro.ferretti@uniroma1.it
Belgium1 site, 1 recruiting
- Recruiting
Division of Neurology, University Hospital Antwerp
Antwerp
Sarah Wechuysen, +32 (3) 265.1780, sarah.weckhuysen@uza.be
Denmark1 site, 1 recruiting
- Recruiting
Danish Epilepsy Centre
Dianalund
Elena Gardella, 0000, elga@filadelfia.dk
France1 site, 1 recruiting
- Recruiting
Pediatric neurology unit, Assistance publique hôpitaux de Marseille and Aix-Marseille University, Timone University Hospital
Marseille
Mathieu Milh, +33 (0)4 91 38 67 45, mathieu.milh@ap-hm.fr
Germany1 site, 1 recruiting
- Recruiting
Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine University Hospital Heidelberg
Heidelberg
Steffen Syrbe, +49 (0)6221 56 4837, steffen.syrbe@med.uni-heidelberg.de
Israel1 site, 1 recruiting
- Recruiting
Pediatric Neurology Department, Edmond and Lily Safra Children's Hospital
Ramat Aviv
Bruria Ben Zeev, +972-3-530-2577, benzeev4@netvision.net.il
Netherlands1 site, 1 recruiting
- Recruiting
Department of Child and Adolescent Psychiatry, Amsterdam UMC
Amsterdam
Hilgo Bruining, +31 20 598 71 16, h.bruining@amsterdamumc.org
Spain1 site, 1 recruiting
- Recruiting
Department of Neurology, Hospital Sant Joan de Deu
Barcelona
Àngeles Garcia Cazorla, +34 93 253 21 00, angeles.garcia@sjd.es
About this study
Official title: Identification and Integration of Multi-omic Biomarkers for the Characterization of Patients With Developmental and Epileptic Encephalopathies (DEE) With a View to Clinical Trials / Identificazione e Integrazione di Multi-omici Biomarcatori Per la Caratterizzazione Dei Pazienti Con Encefalopatie Epilettiche e Dello Sviluppo (DEE) in Vista Dei Trials Clinici
Developmental and Epileptic Encephalopathies (DEEs) with a genetic cause represent a complex group of neurodevelopmental disorders characterized by intellectual disability and drug-resistant epilepsy. Because targeted, disease-modifying precision therapies like gene replacement and antisense oligonucleotides are rapidly approaching clinical trials, establishing objective diagnostic, prognostic, and therapeutic biomarkers is an urgent priority. Promoted by the IRCCS Istituto Giannina Gaslini and coordinated by Prof. Pasquale Striano, the MOBi-DEE protocol aims to identify and integrate multi-omic biomarkers using routine clinical investigations.
The study is designed as a multicenter, international, observational, cross-sectional, case-control, non-interventistico, and non-profit project targeting an enrollment of approximately 200 participants up to 55 years of age, including patients with genetically confirmed DEE and control subjects.
Read more
The methodology relies on biological samples and instrumental tests already collected during standard clinical follow-ups, avoiding any additional invasive procedures purely for research. Blood, urine, and stool samples are collected for metabolomic profiling, extracellular vesicle analysis, and gut microbiota metagenomics. Cerebrospinal fluid is analyzed exclusively if obtained as excess residual material from necessary diagnostic or therapeutic lumbar punctures or ventricular drains. Additionally, resting-state electroencephalogram recordings are evaluated via quantitative analysis to profile brain electrical dynamics, while electronic clinical report forms capture demographic data, genetic diagnoses, seizure characteristics, neurological status, and gastrointestinal symptoms via standardized questionnaires like Rome IV.
This research is vital for patients, families, and healthcare providers because it helps overcome the barrier of rare, heterogeneous patient populations through biomarker discovery, ultimately aiding the design of robust clinical trials for breakthrough therapies. By depending primarily on routine clinical samples and non-invasive collection methods, the study minimizes any added physical burden or risk for patients and families. Furthermore, strict data protection protocols govern privacy, while multi-centre material transfer agreements and future peer-reviewed publications aim to accelerate international research and therapeutic development.
- Keywords
- multi-omic biomarkers
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 |
|---|---|---|
| Cases | Patients with epileptic and developmental encephalopathy | |
| Controls | Healthy controls |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurophysiological profiling of DEE patients.
Measured: Once, at visit 1 only
Metabolomic profiling of DEE patients compared to controls across different biofluids (plasma, urine, stool, cerebrospinal fluid)
Enriched metabolites and pathways in DEE patients compared to controls;
Depleted metabolites and pathways in DEE patients compared to controls.
Measured: Once, at visit 1 only
Gut microbiota profiling of DEE patients compared to controls
Differences between DEE patients and controls for the following gut microbiota variables: taxonomic groups, alpha diversity, and beta diversity.
Measured: Once, at visit 1 only
Profiling of extracellular vesicles identified in the analyzed biofluids of participants
Relative abundance of extracellular vesicles extractable from plasma, urine, and cerebrospinal fluid.
Characterization of extracellular vesicles extracted from plasma, urine, and cerebrospinal fluid.
Measured: Once, at visit 1 only
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2026
- Study start4 Jul 2024
- Primary completion1 Dec 2025
- Study completionDec 2028 (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 Encephalopathies (DEE)Studies 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
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07909382
- Sponsor's protocol ID
- MOBi-DEE
- Acronym
- MOBi-DEE
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 2 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Integration of Multi-omic Biomarkers for the Characterization of Patients With Developmental and Epileptic Encephalopathies (DEE) With a View to Clinical Trials / Identificazione e Integrazione di Multi-omici Biomarcatori Per la Caratterizzazione Dei Pazienti Con Encefalopatie Epilettiche e Dello Sviluppo (DEE) in Vista Dei Trials Clinici
- ClinicalTrials.gov ID
- NCT07909382
- Acronym / sponsor ID
- MOBi-DEE / MOBi-DEE
- Keywords
- multi-omic biomarkers
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Istituto Giannina GasliniUniversity, hospital or other
- Study start
- 4 Jul 2024 (actual)
- Primary completion
- 1 Dec 2025 (actual)
- Study completion
- Dec 2028 (estimated)
- First posted
- 2 Nov 2026 (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 Encephalopathies (DEEs) with a genetic cause represent a complex group of neurodevelopmental disorders characterized by intellectual disability and drug-resistant epilepsy. Because targeted, disease-modifying precision therapies like gene replacement and antisense oligonucleotides are rapidly approaching clinical trials, establishing objective diagnostic, prognostic, and therapeutic biomarkers is an urgent priority. Promoted by the IRCCS Istituto Giannina Gaslini and coordinated by Prof. Pasquale Striano, the MOBi-DEE protocol aims to identify and integrate multi-omic biomarkers using routine clinical investigations.
The study is designed as a multicenter, international, observational, cross-sectional, case-control, non-interventistico, and non-profit project targeting an enrollment of approximately 200 participants up to 55 years of age, including patients with genetically confirmed DEE and control subjects.
The methodology relies on biological samples and instrumental tests already collected during standard clinical follow-ups, avoiding any additional invasive procedures purely for research. Blood, urine, and stool samples are collected for metabolomic profiling, extracellular vesicle analysis, and gut microbiota metagenomics. Cerebrospinal fluid is analyzed exclusively if obtained as excess residual material from necessary diagnostic or therapeutic lumbar punctures or ventricular drains. Additionally, resting-state electroencephalogram recordings are evaluated via quantitative analysis to profile brain electrical dynamics, while electronic clinical report forms capture demographic data, genetic diagnoses, seizure characteristics, neurological status, and gastrointestinal symptoms via standardized questionnaires like Rome IV.
This research is vital for patients, families, and healthcare providers because it helps overcome the barrier of rare, heterogeneous patient populations through biomarker discovery, ultimately aiding the design of robust clinical trials for breakthrough therapies. By depending primarily on routine clinical samples and non-invasive collection methods, the study minimizes any added physical burden or risk for patients and families. Furthermore, strict data protection protocols govern privacy, while multi-centre material transfer agreements and future peer-reviewed publications aim to accelerate international research and therapeutic development.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cases | – | –Patients with epileptic and developmental encephalopathy |
| Controls | – | –Healthy controls |
Who may qualify
- Ages
- 0 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with DEEs from several epilepsy sites
Key inclusion criteria (5 listed)
- For patients:
- Diagnosis of Developmental and Epileptic Encephalopathy with proven genetic etiology report;
- Informed consent from a parent/legal representative in case of inability to provide consent due to severe cognitive disability, and where required by age, informed assent.
- Presence of informed consent from the participant and/or their legal guardian, and where required by age, informed assent.
Key exclusion criteria (11 listed)
- For patients:
- Lack of informed consent / assent.
- Diagnosis other than Developmental and Epileptic Encephalopathy with genetic etiology;
- Absence of genetic test report;
- Severe conditions requiring pharmacological polytherapy, in addition to antiseizure medications (e.g., kidney disease, heart disease, diabetes, oncological disease, etc.);
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
Neurophysiological profiling of DEE patients.
Time frame: Once, at visit 1 only
Metabolomic profiling of DEE patients compared to controls across different biofluids (plasma, urine, stool, cerebrospinal fluid)
Time frame: Once, at visit 1 only
Enriched metabolites and pathways in DEE patients compared to controls; Depleted metabolites and pathways in DEE patients compared to controls.
Gut microbiota profiling of DEE patients compared to controls
Time frame: Once, at visit 1 only
Differences between DEE patients and controls for the following gut microbiota variables: taxonomic groups, alpha diversity, and beta diversity.
Profiling of extracellular vesicles identified in the analyzed biofluids of participants
Time frame: Once, at visit 1 only
Relative abundance of extracellular vesicles extractable from plasma, urine, and cerebrospinal fluid. Characterization of extracellular vesicles extracted from plasma, urine, and cerebrospinal fluid.
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 2 Nov 2026.
- Individual participant dataSharing planned: Undecided
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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.
14 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Developmental and Epileptic Encephalopathies (DEE), run by Istituto Giannina Gaslini at 14 sites in 8 countries.
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 11 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 2 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in Italy, Belgium, Denmark, France, Germany and 3 more countries. 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 Pasquale Striano, MD, PHD (+3901056362758, pasqualestriano@gaslini.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurophysiological profiling of DEE patients. (time frame: Once, at visit 1 only). The study lists 4 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 2 Nov 2026.