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
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