Intellectual DisabilityNGS-DINCT02889068
Targeted Next Generation Sequencing and Intellectual Disability
An observational study of Intellectual Disability, run by Central Hospital, Nancy, France at 1 site in France.
Trial summary
The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Intellectual Disability
- What is being tested?
- Blood sample
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- Jul 2015to 30 Jan 2017
- 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: Patients with severe to moderate intellectual disability, with syndrome or not.
Who may be able to join
- Moderate or severe intellectual disability
- Availability of patient and parent DNA
- No etiologic diagnosis with standard approaches: negative fragile X, normal pangenomic 180K and 1M array-CGH
- Informed consent of person having parental authority
Who cannot join
- Non availability of parent DNA
- Patient lost to follow-up
Trial locations and contacts
1 site in 1 country.
About this study
The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families.
Secondary purposes are:
- To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.
- To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.
- To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth
- To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS
- To establish genotype/phenotype correlations for each gene for which a mutation has been identified
- To optimize the software pipelining for a rapid analysis for diagnosis.
- Conditions
- Intellectual Disability
- Being tested
- Blood sample
- Medical subject headings
- Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleOther
| Study group | Role | What they receive |
|---|---|---|
| Intellectual disability | Not described Receives: Other: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of patients with certain etiologic diagnosis established with NGS
Measured: day 0
Secondary outcomes (6)
Percentage of patients with etiologic diagnosis established with NGS or with other techniques (array-CGH)
Measured: day 0
Obtained read depth according to number of pooled samples
Measured: day 0
Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in intellectual disability
Measured: day 0
CNVs detected with NGS or array-CGH (reference technique for CNV detection).
Measured: day 0
Clinical phenotype for each gene for which a causal mutation is identified by NGS
Measured: day 0
Time of analysis of NGS raw data
Measured: day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2016 (estimated)
- Study startJul 2015
- Primary completion30 Sep 2016
- Study completion30 Jan 2017
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.
- 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
- Cross-sectional
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Central Hospital, Nancy, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Céline BONNET, Principal investigator, CHRU de Nancy Laboratoire de Génétique Hôpitaux de Brabois
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02889068
- Sponsor's protocol ID
- PSS2014/NGSDI-BONNET/NK
- Acronym
- NGS-DI
- Status last verified
- Jul 2017
- First submitted
- 31 Aug 2016
- Last updated
- 28 Jul 2017
- 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 28 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Targeted Next Generation Sequencing and Intellectual Disability
- ClinicalTrials.gov ID
- NCT02889068
- Acronym / sponsor ID
- NGS-DI / PSS2014/NGSDI-BONNET/NK
- Conditions
- Intellectual Disability
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Central Hospital, Nancy, FranceUniversity, hospital or other
- Study start
- Jul 2015 (actual)
- Primary completion
- 30 Sep 2016 (actual)
- Study completion
- 30 Jan 2017 (actual)
- First posted
- 5 Sep 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.
The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families.
Secondary purposes are:
- To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.
- To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.
- To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth
- To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS
- To establish genotype/phenotype correlations for each gene for which a mutation has been identified
- To optimize the software pipelining for a rapid analysis for diagnosis.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intellectual disability | – | Other: Blood sample |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with severe to moderate intellectual disability, with syndrome or not.
Key inclusion criteria (4 listed)
- Moderate or severe intellectual disability
- Availability of patient and parent DNA
- No etiologic diagnosis with standard approaches: negative fragile X, normal pangenomic 180K and 1M array-CGH
- Informed consent of person having parental authority
Key exclusion criteria (2 listed)
- Non availability of parent DNA
- Patient lost to follow-up
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 |
|---|---|---|
| Blood sample | Other | Intellectual disability |
Primary outcome
Percentage of patients with certain etiologic diagnosis established with NGS
Time frame: day 0
6 secondary outcomes
Percentage of patients with etiologic diagnosis established with NGS or with other techniques (array-CGH)
Time frame: day 0
Obtained read depth according to number of pooled samples
Time frame: day 0
Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in intellectual disability
Time frame: day 0
CNVs detected with NGS or array-CGH (reference technique for CNV detection).
Time frame: day 0
Clinical phenotype for each gene for which a causal mutation is identified by NGS
Time frame: day 0
Time of analysis of NGS raw data
Time frame: day 0
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 28 Jul 2017.
- 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.
Céline BONNET principal investigator
CHRU de Nancy Laboratoire de Génétique Hôpitaux de Brabois
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 Central Hospital, Nancy, 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 4 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: finished, as of the sponsor's last update on 28 Jul 2017. 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?
Percentage of patients with certain etiologic diagnosis established with NGS (time frame: day 0). 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 28 Jul 2017.