Autistic DisorderNCT02862340
Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation
A study testing Genetic test in people with Autistic Disorder, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
Autism, ranked among the '' pervasive developmental disorders' (ASD), is characterized by disturbances in the areas of reciprocal social interaction, communication and behavior, interests and activities restricted, repetitive. Read more about this study
- Who is it for?
- Ages 4 to 18 years
- Conditions the study is for
- Autistic Disorder
- What is being tested?
- Genetic test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2008to Feb 2012
- Phase
- Interventional
- 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 4 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Subject unadopted 4 to 18 years
- Subject completing the autism spectrum disorder criteria development by diagnostic grid ICD10 recognized by the international community child psychiatry. The ADI-R test is always associated.
- Subject has at least one of the following abnormalities:
- Mental retardation, Anomaly morphological examination (abnormal weight and height growth and / or head circumference, abnormal ends, dysmorphic ...) Malformation (s) visceral (s) Behavioural disorders other than autistic disorder (aggression, sleep disorders ...) Abnormal neurological examination and brain imaging, Family history of autism and / or mental retardation.
- Parents of the subject and topics affiliated to a social security scheme
Who cannot join
- Etiologie de la pathologie autistique connue (Syndrome de Rett, Xfra…)
- Absence de consentement éclairé des patients et des représentants de l'autorité parentale
- Parents sous tutelle ou curatelle
Trial locations and contacts
1 site in 1 country.
About this study
Autism, ranked among the '' pervasive developmental disorders' (ASD), is characterized by disturbances in the areas of reciprocal social interaction, communication and behavior, interests and activities restricted, repetitive. Various studies indicate that autistic disorder is subjected to a genetic predisposition, most likely polygenic and heterogeneous. However, no major gene responsible for this disorder has yet been identified. Given the link between the Fragile X syndrome (the most common form of mental retardation (MR) hereditary) and autistic behavior, it seems interesting to look, also, a possible link to the molecular level. Among the proteins interacting with FMRP (absent protein in fragile X patients), the investigators were interested to CYFIP1, protein encoded by the gene CYFIP1 appears to be a good candidate gene involved in the RM and autism by its chromosomal position and function. As FMR1, CYFIP1 is expressed in the brain cortex, hippocampus and Purkinje cells of the cerebellum. This protein co-localizes and interacts with Rac and FMRP, which are both involved in neurogenesis and cognitive development. In humans, the gene encoding CYFIP1 is located in the 15q11-q13. Now, the only autosomal abnormalities most frequently observed in autism are those involving the proximal 15q region, including duplications or 15q11-q13 triplications interstitial, of maternal origin.
These data suggest that an / or more autism genes responsible are probably present in the 15q11-q13 chromosomal region, although no gene has yet been identified. Thus, the study of the role of CYFIP1 gene in patients with autism spectrum disorders would most likely contributory.
Read more
The investigators wish to study the involvement of the 15q11-q13 chromosomal region and CYFIP1 gene in autistic disorder in a hundred patients from the Autism Resource Centre (ARC) Nice PACA antenna, over a two year period.
The diagnosis and assessment report of children likely to be included in this study will be conducted at ARC Nice. Balance sheets are made according to the recommendations of the High Authority of Health for diagnosis of infantile autism and PDD. These children are then sent to the Genetic Consultation Nice Hospital where an analysis of the background and a specific morphological examination will be realized..
- Conditions
- Autistic Disorder
- Being tested
- Genetic test
- Medical subject headings
- Autistic Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testGenetic
| Study group | Role | What they receive |
|---|---|---|
| Autistic disorder | Other | Children over 4 years with an autistic disorder of unknown etiology with the techniques currently available and accessible in routine diagnostics. Receives: Genetic: Genetic test |
What is being measured
The primary outcome is the main question the study is designed to answer.
presence or absence of abnormality in 15q11q13 gene
Testing a candidate gene in a chromosomal region known to be involved in autism
Measured: At the inclusion
Secondary outcomes (1)
phenotype
Syndromic or specific behavioral phenotypes corresponding to the identified molecular abnormalities
Measured: At the inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2016 (estimated)
- Study startJan 2008
- Primary completionJan 2008
- Study completionFeb 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autistic DisorderStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02862340
- Sponsor's protocol ID
- 07-PP-01
- Status last verified
- Aug 2016
- First submitted
- 21 Jul 2016
- Last updated
- 11 Aug 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation
- ClinicalTrials.gov ID
- NCT02862340
- Acronym / sponsor ID
- 07-PP-01
- Conditions
- Autistic Disorder
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- Jan 2008
- Primary completion
- Jan 2008 (actual)
- Study completion
- Feb 2012 (actual)
- First posted
- 11 Aug 2016 (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.
Autism, ranked among the '' pervasive developmental disorders' (ASD), is characterized by disturbances in the areas of reciprocal social interaction, communication and behavior, interests and activities restricted, repetitive. Various studies indicate that autistic disorder is subjected to a genetic predisposition, most likely polygenic and heterogeneous. However, no major gene responsible for this disorder has yet been identified. Given the link between the Fragile X syndrome (the most common form of mental retardation (MR) hereditary) and autistic behavior, it seems interesting to look, also, a possible link to the molecular level. Among the proteins interacting with FMRP (absent protein in fragile X patients), the investigators were interested to CYFIP1, protein encoded by the gene CYFIP1 appears to be a good candidate gene involved in the RM and autism by its chromosomal position and function. As FMR1, CYFIP1 is expressed in the brain cortex, hippocampus and Purkinje cells of the cerebellum. This protein co-localizes and interacts with Rac and FMRP, which are both involved in neurogenesis and cognitive development. In humans, the gene encoding CYFIP1 is located in the 15q11-q13. Now, the only autosomal abnormalities most frequently observed in autism are those involving the proximal 15q region, including duplications or 15q11-q13 triplications interstitial, of maternal origin.
These data suggest that an / or more autism genes responsible are probably present in the 15q11-q13 chromosomal region, although no gene has yet been identified. Thus, the study of the role of CYFIP1 gene in patients with autism spectrum disorders would most likely contributory.
The investigators wish to study the involvement of the 15q11-q13 chromosomal region and CYFIP1 gene in autistic disorder in a hundred patients from the Autism Resource Centre (ARC) Nice PACA antenna, over a two year period.
The diagnosis and assessment report of children likely to be included in this study will be conducted at ARC Nice. Balance sheets are made according to the recommendations of the High Authority of Health for diagnosis of infantile autism and PDD. These children are then sent to the Genetic Consultation Nice Hospital where an analysis of the background and a specific morphological examination will be realized..
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Autistic disorder | Other | Genetic: Genetic testChildren over 4 years with an autistic disorder of unknown etiology with the techniques currently available and accessible in routine diagnostics. |
Who may qualify
- Ages
- 4 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Subject unadopted 4 to 18 years
- Subject completing the autism spectrum disorder criteria development by diagnostic grid ICD10 recognized by the international community child psychiatry. The ADI-R test is always associated.
- Subject has at least one of the following abnormalities:
- Mental retardation, Anomaly morphological examination (abnormal weight and height growth and / or head circumference, abnormal ends, dysmorphic ...) Malformation (s) visceral (s) Behavioural disorders other than autistic disorder (aggression, sleep disorders ...) Abnormal neurological examination and brain imaging, Family history of autism and / or mental retardation.
- Parents of the subject and topics affiliated to a social security scheme
Key exclusion criteria (3 listed)
- Etiologie de la pathologie autistique connue (Syndrome de Rett, Xfra…)
- Absence de consentement éclairé des patients et des représentants de l'autorité parentale
- Parents sous tutelle ou curatelle
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 |
|---|---|---|
| Genetic test | Genetic | Autistic disorder |
Primary outcome
presence or absence of abnormality in 15q11q13 gene
Time frame: At the inclusion
Testing a candidate gene in a chromosomal region known to be involved in autism
1 secondary outcome
phenotype
Time frame: At the inclusion
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 11 Aug 2016.
- 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic test in people with Autistic Disorder, run by Centre Hospitalier Universitaire de Nice 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 5 inclusion and 3 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 11 Aug 2016. 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?
presence or absence of abnormality in 15q11q13 gene (time frame: At the inclusion). 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 11 Aug 2016.