Intellectual DisabilityCNV-SeqNCT02881333
Various Type of Genetic Events in Patients With Intellectual Disability
An observational study of Intellectual Disability, run by University Hospital, Strasbourg, France.
Trial summary
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of… Read more about this study
- Who is it for?
- Ages 3 to 75 years
- Conditions the study is for
- Intellectual Disability
- What is being tested?
- Blood samples
- How many people
- 30 participants
- Where
- No sites listed yet
- Study dates
- Sep 2016to Dec 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 3 to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with intellectual deficit without diagnosis
Who may be able to join
- Patients with developmental disabilities
- No etiologic diagnosis but suspected genetic cause
- Fragile X syndrome research negative
Who cannot join
- Children born to consanguineous couples
- Diagnosis already established or suspected
- Identification of an independent etiology
Trial locations and contacts
No sites are listed yet.
Amélie Piton contact
About this study
Official title: Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of one or more candidate genes). The development of high-throughput sequencing techniques (next generation sequencing: NGS) has drastically increased the detection of point mutations offering the possibility to test a large number of genes simultaneously. NGS also shows a huge potential in detecting structural variants. The objective of this research is to assess the sensitivity of a simultaneous detection of point mutations and structural variants by NGS approaches. This would bring together in a single step the equivalent of performing an array-Comparative genomic hybridization (CGH) analysis plus performing a targeted sequencing of candidate genes. Investigators will compare two approaches for this simultaneous detection: a targeted enrichment of candidate genes coding regions using probes covering these regions associated with a backbone of genomic probes, an approach that could be implemented immediately in diagnostic at the hospital, and a whole genome sequencing (WGS), that is currently a too expensive tool for routine diagnosis but that should be the approach used in the future. Investigators will compare these two approaches to the traditional one: CGH array + WGS. The implementation of a "one step" strategy to detect both types of mutations (punctual and structural) would accelerate and improve the access of patients to a molecular diagnosis.
- Conditions
- Intellectual Disability
- Being tested
- Blood samples
- 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 samplesGenetic
What is being measured
The primary outcome is the main question the study is designed to answer.
Detection of mutation from the CGH-array technology on 475 genes
Measured: One year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Aug 2016 (estimated)
- Study startSep 2016
- Primary completionSep 2017 (estimated)
- Study completionDec 2017 (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, Strasbourg, 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
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02881333
- Sponsor's protocol ID
- 6374
- Acronym
- CNV-Seq
- Status last verified
- Aug 2016
- First submitted
- 16 Aug 2016
- Last updated
- 26 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 26 Aug 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability
- ClinicalTrials.gov ID
- NCT02881333
- Acronym / sponsor ID
- CNV-Seq / 6374
- Conditions
- Intellectual Disability
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Sep 2016
- Primary completion
- Sep 2017 (estimated)
- Study completion
- Dec 2017 (estimated)
- First posted
- 26 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.
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of one or more candidate genes). The development of high-throughput sequencing techniques (next generation sequencing: NGS) has drastically increased the detection of point mutations offering the possibility to test a large number of genes simultaneously. NGS also shows a huge potential in detecting structural variants. The objective of this research is to assess the sensitivity of a simultaneous detection of point mutations and structural variants by NGS approaches. This would bring together in a single step the equivalent of performing an array-Comparative genomic hybridization (CGH) analysis plus performing a targeted sequencing of candidate genes. Investigators will compare two approaches for this simultaneous detection: a targeted enrichment of candidate genes coding regions using probes covering these regions associated with a backbone of genomic probes, an approach that could be implemented immediately in diagnostic at the hospital, and a whole genome sequencing (WGS), that is currently a too expensive tool for routine diagnosis but that should be the approach used in the future. Investigators will compare these two approaches to the traditional one: CGH array + WGS. The implementation of a "one step" strategy to detect both types of mutations (punctual and structural) would accelerate and improve the access of patients to a molecular diagnosis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with intellectual deficit without diagnosis
Key inclusion criteria (3 listed)
- Patients with developmental disabilities
- No etiologic diagnosis but suspected genetic cause
- Fragile X syndrome research negative
Key exclusion criteria (3 listed)
- Children born to consanguineous couples
- Diagnosis already established or suspected
- Identification of an independent etiology
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 samples | Genetic | – |
Primary outcome
Detection of mutation from the CGH-array technology on 475 genes
Time frame: One year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 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.
Amélie Piton contact
Questions about this trial
What is this clinical trial studying?
An observational study of Intellectual Disability, run by University Hospital, Strasbourg, 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 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: status not confirmed, as of the sponsor's last update on 26 Aug 2016. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Amélie Piton (amélie.piton@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detection of mutation from the CGH-array technology on 475 genes (time frame: One year). 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 26 Aug 2016.