STXBP1 Encephalopathy With EpilepsyFIMBEXNCT06356233
Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
An observational study of STXBP1 Encephalopathy With Epilepsy, run by Fundación Iniciativa para las Neurociencias (FINCE) at 1 site in Spain.
Trial summary
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. Read more about this study
- Who is it for?
- Ages 1 month to 10 yearsHealthy volunteers can take part
- Conditions the study is for
- STXBP1 Encephalopathy With Epilepsy
- How many people
- 10 participants
- Where
- 1 siteSpain
- Study dates
- 1 May 2024to 31 Dec 2027
- 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 1 month to 10 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Patients under 10 years of age with confirmed mutation for STXBP1 willing to collaborate in the study.
Who may be able to join
- Patients under 10 years of age with confirmed mutation for STXBP1. In cases where the diagnostic technique for the mutation is not optimal, a trio exome will be performed to confirm the mutation.
Who cannot join
- Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Spain1 site
Hospital Ruber Internacional
Madrid, 28034
Alvaro Beltran Corbellini, MD, +34913875250, info@neurologiaclinica.es
Antonio Gil-Nagel, MD, PhD
About this study
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and analysis of biomarkers in cerebrospinal fluid. These patients will be followed up for 3 years. The aim of the study is, knowing the baseline phenotype, to analyse the response to commonly used drugs and to anticipate the response to different drugs available on the market in this group of patients based on clinical and biomarker assessment (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).
- Conditions
- STXBP1 Encephalopathy With Epilepsy
- Being tested
- No intervention will be performed
- Keywords
- STXBP1
- Medical subject headings
- Epileptic Encephalopathy, Early Infantile, 4
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention will be performedOther
No intervention will be performed
What is being measured
The primary outcome is the main question the study is designed to answer.
CSF biomarkers
Measured: Baseline, 1 year and 2 years
EEG markers
Measured: Baseline, 1 year and 2 years
MRI markers
Measured: Baseline, 1 year and 2 years
Secondary outcomes (1)
Clinical phenotype
Measured: Baseline, 1 year and 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2024
- Study start1 May 2024 (estimated)
- Primary completion1 Oct 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for STXBP1 Encephalopathy With EpilepsyStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fundación Iniciativa para las Neurociencias (FINCE)
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Adrián Valls Carbó, Fundación Iniciativa para las Neurociencias (FINCE)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06356233
- Sponsor's protocol ID
- FIMBEX
- Acronym
- FIMBEX
- Status last verified
- Apr 2024
- First submitted
- 4 Apr 2024
- Last updated
- 10 Apr 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 10 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
- ClinicalTrials.gov ID
- NCT06356233
- Acronym / sponsor ID
- FIMBEX / FIMBEX
- Conditions
- STXBP1 Encephalopathy With Epilepsy
- Keywords
- STXBP1
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Fundación Iniciativa para las Neurociencias (FINCE)University, hospital or other
- Study start
- 1 May 2024 (estimated)
- Primary completion
- 1 Oct 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 10 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.
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and analysis of biomarkers in cerebrospinal fluid. These patients will be followed up for 3 years. The aim of the study is, knowing the baseline phenotype, to analyse the response to commonly used drugs and to anticipate the response to different drugs available on the market in this group of patients based on clinical and biomarker assessment (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 month to 10 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Patients under 10 years of age with confirmed mutation for STXBP1 willing to collaborate in the study.
Key inclusion criteria (1 listed)
- Patients under 10 years of age with confirmed mutation for STXBP1. In cases where the diagnostic technique for the mutation is not optimal, a trio exome will be performed to confirm the mutation.
Key exclusion criteria (1 listed)
- Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.
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 |
|---|---|---|
| No intervention will be performedNo intervention will be performed | Other | – |
Primary outcome
CSF biomarkers
Time frame: Baseline, 1 year and 2 years
EEG markers
Time frame: Baseline, 1 year and 2 years
MRI markers
Time frame: Baseline, 1 year and 2 years
1 secondary outcome
Clinical phenotype
Time frame: Baseline, 1 year and 2 years
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 10 Apr 2024.
- Individual participant dataSharing planned: No
Related trials for STXBP1 Encephalopathy With Epilepsy
RecruitingObservational study
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
16P11.2 Deletion Syndrome, 16p11.2 Duplications
RecruitingObservational study
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
STXBP1 Encephalopathy With Epilepsy
Active, not recruitingEarly Phase 1
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, Developmental and Epileptic Encephalopathy
RecruitingObservational study
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Genetic Disease, STXBP1 Encephalopathy With Epilepsy
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.
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 STXBP1 Encephalopathy With Epilepsy, run by Fundación Iniciativa para las Neurociencias (FINCE) at 1 site in Spain.
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 1 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: opening soon, as of the sponsor's last update on 10 Apr 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 Spain. 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CSF biomarkers (time frame: Baseline, 1 year and 2 years). The study lists 3 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 10 Apr 2024.