Neurodevelopmental DisordersSEPASANCT07492199
High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.
An observational study of Neurodevelopmental Disorders and Intellectual Developmental Disorder, run by Centre Hospitalier Universitaire de Besancon.
Trial summary
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurodevelopmental Disorders, Intellectual Developmental Disorder
- What is being tested?
- genetic
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2026to 1 Apr 2029
- 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: Men and women of all ages with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD) and a trio genome sequencing on blood inconclusive
Who may be able to join
- Patient with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD)
- Trio genome sequencing on blood inconclusive
- Men and women
- All ages
- No objection to participating in the study
- Affiliation with a French social security system or beneficiary of such a system
Who cannot join
- Pregnant women and nursing mothers
- Persons deprived of their liberty by judicial or administrative decision; persons undergoing compulsory psychiatric care; persons admitted to a health or social care facility for purposes other than research
- Subjects who are in the exclusion period of another study or listed in the "national volunteer registry"
- Genetic cause identified in the preliminary etiological assessment
- Phenocopy: other likely non-genetic cause of TND (perinatal anoxia, infection, trauma, etc.)
- Patients without health insurance
- Patients unlikely to cooperate with the study and/or anticipated low cooperation by the investigator
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Evaluation of the Diagnostic Performance of High-depth Exome Sequencing on DNA From a Salivary Sample by Oral Smear in the Etiological Assessment of Patients With a Syndromic Neurodevelopmental Disorder or an Intellectual Development Disorder and for Which the Sequencing of the Genome on Blood Has Proved Inconclusive.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups. However, identifying a precise etiological diagnosis is essential to optimize patient care, clarify their prognosis, consider targeted therapies, refer families to appropriate resources and support, and provide genetic counseling to relatives. The tests typically offered as part of the etiological assessment of syndromic NDDs and IDD include DNA microarray analysis, testing for fragile X syndrome and genome sequencing from a blood sample. When this assessment remains negative, the cause usually remains unknown.
Mosaic genomic abnormalities (or post-zygotic variations) are a common cause of negative results in current diagnostic genetic tests and represent a field of research that has yet to be fully explored outside of skin disorders. Identifying mosaic genomic abnormalities remains technically complex due to the difficulty of detecting low levels of mosaicism and limited access to the tissue of interest when the variation is absent from blood tissue.
Read more
High-depth exome sequencing is the technique of choice for detecting low levels of mosaicism. In the case of NNDs, as the affected tissue is not available, the buccal epithelium is an interesting alternative to blood, as it is easily accessible and inexpensive.
The objective of our study is to evaluate the diagnostic yield of high-depth exome sequencing technology on a DNA extracted from a buccal swab in the etiological assessment of patients with IDD or syndromic NDD whose reference analysis (genome sequencing on blood) proved inconclusive.
- Being tested
- genetic
- Medical subject headings
- Neurodevelopmental Disorders, Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
geneticDiagnostic test
buccal swab
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of a defined genetic cause by demonstrating at least one variation of class 4 (probably pathogenic) or 5 (pathogenic) according to the ACMG classification explaining the patient's symptoms.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Mar 2026
- Study start1 Apr 2026 (estimated)
- Primary completion1 Apr 2028 (estimated)
- Study completion1 Apr 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodevelopmental DisordersStudies 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
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Besancon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07492199
- Sponsor's protocol ID
- 2026/1030
- Acronym
- SEPASA
- Status last verified
- Mar 2026
- First submitted
- 19 Mar 2026
- Last updated
- 14 Apr 2026
- 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 14 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Diagnostic Performance of High-depth Exome Sequencing on DNA From a Salivary Sample by Oral Smear in the Etiological Assessment of Patients With a Syndromic Neurodevelopmental Disorder or an Intellectual Development Disorder and for Which the Sequencing of the Genome on Blood Has Proved Inconclusive.
- ClinicalTrials.gov ID
- NCT07492199
- Acronym / sponsor ID
- SEPASA / 2026/1030
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de BesanconUniversity, hospital or other
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 1 Apr 2028 (estimated)
- Study completion
- 1 Apr 2029 (estimated)
- First posted
- 25 Mar 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.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups. However, identifying a precise etiological diagnosis is essential to optimize patient care, clarify their prognosis, consider targeted therapies, refer families to appropriate resources and support, and provide genetic counseling to relatives. The tests typically offered as part of the etiological assessment of syndromic NDDs and IDD include DNA microarray analysis, testing for fragile X syndrome and genome sequencing from a blood sample. When this assessment remains negative, the cause usually remains unknown.
Mosaic genomic abnormalities (or post-zygotic variations) are a common cause of negative results in current diagnostic genetic tests and represent a field of research that has yet to be fully explored outside of skin disorders. Identifying mosaic genomic abnormalities remains technically complex due to the difficulty of detecting low levels of mosaicism and limited access to the tissue of interest when the variation is absent from blood tissue.
High-depth exome sequencing is the technique of choice for detecting low levels of mosaicism. In the case of NNDs, as the affected tissue is not available, the buccal epithelium is an interesting alternative to blood, as it is easily accessible and inexpensive.
The objective of our study is to evaluate the diagnostic yield of high-depth exome sequencing technology on a DNA extracted from a buccal swab in the etiological assessment of patients with IDD or syndromic NDD whose reference analysis (genome sequencing on blood) proved inconclusive.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Men and women of all ages with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD) and a trio genome sequencing on blood inconclusive
Key inclusion criteria (6 listed)
- Patient with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD)
- Trio genome sequencing on blood inconclusive
- Men and women
- All ages
- No objection to participating in the study
Key exclusion criteria (7 listed)
- Pregnant women and nursing mothers
- Persons deprived of their liberty by judicial or administrative decision; persons undergoing compulsory psychiatric care; persons admitted to a health or social care facility for purposes other than research
- Subjects who are in the exclusion period of another study or listed in the "national volunteer registry"
- Genetic cause identified in the preliminary etiological assessment
- Phenocopy: other likely non-genetic cause of TND (perinatal anoxia, infection, trauma, etc.)
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 |
|---|---|---|
| geneticbuccal swab | Diagnostic test | – |
Primary outcome
Identification of a defined genetic cause by demonstrating at least one variation of class 4 (probably pathogenic) or 5 (pathogenic) according to the ACMG classification explaining the patient's symptoms.
Time frame: 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 14 Apr 2026.
- 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.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurodevelopmental Disorders and Intellectual Developmental Disorder, run by Centre Hospitalier Universitaire de Besancon.
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 6 inclusion and 7 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 14 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
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 Juliette PIARD, Pr (33381218187, jpiard@chu-besancon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of a defined genetic cause by demonstrating at least one variation of class 4 (probably pathogenic) or 5 (pathogenic) according to the ACMG classification explaining the patient's symptoms. (time frame: 2 years). 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 14 Apr 2026.