Intellectual DisabilityGeneDefiNCT01867554
Research and Characterization of New Genes Involved in Intellectual Disability
An observational study of Intellectual Disability, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases. The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Intellectual Disability
- What is being tested?
- gene analysis
- How many people
- 8,500 participants
- Where
- 1 siteFrance
- Study dates
- 31 Dec 2012to 31 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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: * 2500 patients with intellectuel disability * 5000 parents or unaffected sibs * 1000 affected sibs
Who may be able to join
- for the patients: Clinical diagnosis of intellectual disbility
- for the unaffected sibs: to be aged at least 3 years
- informed consent
Who cannot join
- absence of informed consent
Trial locations and contacts
1 site in 1 country.
France1 site
CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,
Paris, 750013
About this study
Official title: Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.
Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases.
The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations.
- Conditions
- Intellectual Disability
- Being tested
- gene analysis
- Keywords
- Intellectual disability, Autism spectrum disorders, gene, Next generation sequencing
- Medical subject headings
- Intellectual Disability, Autism Spectrum Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
gene analysisGenetic
gene analysis
| Study group | Role | What they receive |
|---|---|---|
| Intellectual disability | patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not) Receives: Genetic: gene analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with genetic cause identified
Number of participants for which the causative gene of intellectual disability will be identified and number of genes involved in intellectual disability identified with new technologies including microarray and next generation sequencing
Measured: 5 years
Secondary outcomes (1)
genotype-phenotype correlations
Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified
Measured: genotype-phenotype correlations (according to the genes identified in a period of 5 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jun 2013 (estimated)
- Study start31 Dec 2012
- Primary completion31 Dec 2022
- Study completion31 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Intellectual DisabilityStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 8,500 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Alexis Brice, MD, Study director, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01867554
- Sponsor's protocol ID
- C12-06
- Other IDs
- 2012-A00936-37
- Acronym
- GeneDefi
- Status last verified
- Jan 2025
- First submitted
- 28 Jan 2013
- Last updated
- 3 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102.
PubMed 23092983
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.
- ClinicalTrials.gov ID
- NCT01867554
- Acronym / sponsor ID
- GeneDefi / C12-06
- Conditions
- Intellectual Disability
- Keywords
- Intellectual disability, Autism spectrum disorders, gene, Next generation sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8,500 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 31 Dec 2012 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 4 Jun 2013 (estimated)
- 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.
Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases.
The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intellectual disability | – | Genetic: gene analysispatients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * 2500 patients with intellectuel disability * 5000 parents or unaffected sibs * 1000 affected sibs
Key inclusion criteria (3 listed)
- for the patients: Clinical diagnosis of intellectual disbility
- for the unaffected sibs: to be aged at least 3 years
- informed consent
Key exclusion criteria (1 listed)
- absence of informed consent
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 |
|---|---|---|
| gene analysisgene analysis | Genetic | Intellectual disability |
Primary outcome
Number of participants with genetic cause identified
Time frame: 5 years
Number of participants for which the causative gene of intellectual disability will be identified and number of genes involved in intellectual disability identified with new technologies including microarray and next generation sequencing
1 secondary outcome
genotype-phenotype correlations
Time frame: genotype-phenotype correlations (according to the genes identified in a period of 5 years)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2026.
- Background: PubMed 23092983Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102.
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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. This study is not recruiting at the moment.
Alexis Brice, MD study director
Institut National de la Santé Et de la Recherche Médicale, France
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 Institut National de la Santé Et de la Recherche Médicale, France 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 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: finished, as of the sponsor's last update on 3 Jun 2026. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with genetic cause identified (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01867554, which also lists 1 linked publication.
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 3 Jun 2026.