Intellectual DisabilityGWAS-2DINCT06706934
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
An observational study of Intellectual Disability, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression. It therefore appears necessary to study large series of patients with intellectual disabilities. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Intellectual Disability
- How many people
- 1,400 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2025to Jul 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with intellectual disabilities or related but not affected by them
Who may be able to join
- Patients with Intellectual Disability or related but not affected by them
- Major or minor with autorisation of legal representative
- Exome sequencing in Bordeaux University Hospital between 2018 and 2024
Who cannot join
- Refusal to participate in research protocols
- Refusal to participate expressed following receipt of information letter.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Chu de Bordeaux
Bordeaux
Vincent MICHAUD, +33556795952, vincent.michaud@chu-bordeaux.fr
About this study
Official title: Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities GWAS-2DI.
Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression. It therefore appears necessary to study large series of patients with intellectual disabilities. The objective is to identify variants in phenotype-modifying genes in patients with intellectual disability.
Read the detailed description
Thanks to the contribution of NGS analyses (exome and genome analysis), the rate of etiological diagnosis in intellectual disability is currently approaching 42% in some meta-analyses. At Bordeaux University Hospital, since 2017, 700 patients have been sequenced for intellectual disability, with a diagnostic rate of 33%.
In genetics, epistasis refers to the interaction between two or more genes. As part of its previous work, BIONOMEEX has developed an algorithm called GWAS-2D (genome wide association study 2 dimension) which makes it possible to observe, from a large number of samples and for a given phenotype, the relationships existing between two loci on the genome.
The GWAS-2DI project involves the reanalysis of exome sequencing data from patients with intellectual disabilities at Bordeaux University Hospital, using a GWAS-2D algorithm developed by BIONOMEEX to search for phenotype-modifying genes.
- Conditions
- Intellectual Disability
- Keywords
- Intellectual Disability, epistatic interaction
- Medical subject headings
- Intellectual Disability
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 |
|---|---|---|
| Patients | Patients group with intellectual disability | |
| Control | Control group without intellectual disability |
What is being measured
The primary outcome is the main question the study is designed to answer.
Variants in phenotype-modifying genes
Identifying variants in phenotype-modifying genes in patients with intellectual disability.
Measured: Inclusion visit
Secondary outcomes (1)
Phenotypic traits
Correlation phenotypic traits with additional diagnostic variants
Measured: Inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Nov 2024
- Study start1 Mar 2025 (estimated)
- Primary completionJul 2027 (estimated)
- Study completionJul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Intellectual DisabilityStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 1,400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent MICHAUD, MD, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06706934
- Sponsor's protocol ID
- CHUBX 2024 75
- Acronym
- GWAS-2DI
- Status last verified
- Nov 2024
- First submitted
- 22 Nov 2024
- Last updated
- 27 Feb 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 27 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities GWAS-2DI.
- ClinicalTrials.gov ID
- NCT06706934
- Acronym / sponsor ID
- GWAS-2DI / CHUBX 2024 75
- Conditions
- Intellectual Disability
- Keywords
- Intellectual Disability, epistatic interaction
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 1,400 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 1 Mar 2025 (estimated)
- Primary completion
- Jul 2027 (estimated)
- Study completion
- Jul 2027 (estimated)
- First posted
- 27 Nov 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.
Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression. It therefore appears necessary to study large series of patients with intellectual disabilities. The objective is to identify variants in phenotype-modifying genes in patients with intellectual disability.
Detailed description
Thanks to the contribution of NGS analyses (exome and genome analysis), the rate of etiological diagnosis in intellectual disability is currently approaching 42% in some meta-analyses. At Bordeaux University Hospital, since 2017, 700 patients have been sequenced for intellectual disability, with a diagnostic rate of 33%.
In genetics, epistasis refers to the interaction between two or more genes. As part of its previous work, BIONOMEEX has developed an algorithm called GWAS-2D (genome wide association study 2 dimension) which makes it possible to observe, from a large number of samples and for a given phenotype, the relationships existing between two loci on the genome.
The GWAS-2DI project involves the reanalysis of exome sequencing data from patients with intellectual disabilities at Bordeaux University Hospital, using a GWAS-2D algorithm developed by BIONOMEEX to search for phenotype-modifying genes.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | –Patients group with intellectual disability |
| Control | – | –Control group without intellectual disability |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with intellectual disabilities or related but not affected by them
Key inclusion criteria (3 listed)
- Patients with Intellectual Disability or related but not affected by them
- Major or minor with autorisation of legal representative
- Exome sequencing in Bordeaux University Hospital between 2018 and 2024
Key exclusion criteria (2 listed)
- Refusal to participate in research protocols
- Refusal to participate expressed following receipt of information letter.
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
Variants in phenotype-modifying genes
Time frame: Inclusion visit
Identifying variants in phenotype-modifying genes in patients with intellectual disability.
1 secondary outcome
Phenotypic traits
Time frame: Inclusion visit
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 27 Feb 2025.
- 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.
Vincent MICHAUD, MD principal investigator
University Hospital, Bordeaux
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 Intellectual Disability, run by University Hospital, Bordeaux at 1 site 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 3 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: opening soon, as of the sponsor's last update on 27 Feb 2025. 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 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 Vincent MICHAUD, MD (+33556795952, vincent.michaud@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Variants in phenotype-modifying genes (time frame: Inclusion visit). 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 27 Feb 2025.