Intellectual DisabilitySEESICNCT03644797
Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
An observational study of Intellectual Disability, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Intellectual Disability
- What is being tested?
- Exome sequencing
- How many people
- 18 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2018to Mar 2019
- 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 presenting intellectual disability and carrying a 16p13.11 copy number variant.
Who may be able to join
- Patients presenting intellectual disability
- Patients carrying a 16p13.11 copy number variant
- Blood DNA available without re sampling for the patient and his parents.
- Consent for genetics analysis already for the patient and his parents.
Who cannot join
- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Femme Mère Enfant (Groupement Hospitalier Est)
Bron
Nicolas CHATRON, MD, 0472129697 ext. +33, nicolas.chatron@chu-lyon.fr
Nicolas CHATRON, MD
About this study
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
- Conditions
- Intellectual Disability
- Being tested
- Exome sequencing
- Medical subject headings
- Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exome sequencingGenetic
Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array. Receives: Genetic: Exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Second pathogenic molecular event on exome data
Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines
Measured: 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Aug 2018
- Study startSep 2018 (estimated)
- Primary completionDec 2018 (estimated)
- Study completionMar 2019 (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 Hospices Civils de LyonThe 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
- Retrospective
- Enrolment
- 18 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nicolas CHATRON, MD, Study director, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03644797
- Sponsor's protocol ID
- 69HCL17_0693
- Acronym
- SEESIC
- Status last verified
- Aug 2018
- First submitted
- 5 Jul 2018
- Last updated
- 23 Aug 2018
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Aug 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
- ClinicalTrials.gov ID
- NCT03644797
- Acronym / sponsor ID
- SEESIC / 69HCL17_0693
- Conditions
- Intellectual Disability
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 18 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Sep 2018 (estimated)
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Mar 2019 (estimated)
- First posted
- 23 Aug 2018 (actual)
- 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.
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Genetic: Exome sequencingPatients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients presenting intellectual disability and carrying a 16p13.11 copy number variant.
Key inclusion criteria (4 listed)
- Patients presenting intellectual disability
- Patients carrying a 16p13.11 copy number variant
- Blood DNA available without re sampling for the patient and his parents.
- Consent for genetics analysis already for the patient and his parents.
Key exclusion criteria (1 listed)
- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed
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 |
|---|---|---|
| Exome sequencingDetection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant. | Genetic | Patients |
Primary outcome
Second pathogenic molecular event on exome data
Time frame: 4 months
Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Aug 2018.
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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.
Nicolas CHATRON, MD study director
Hospices Civils de Lyon
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 Hospices Civils de Lyon 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 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: status not confirmed, as of the sponsor's last update on 23 Aug 2018. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Nicolas CHATRON, MD (0472129697 ext. +33, nicolas.chatron@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Second pathogenic molecular event on exome data (time frame: 4 months). 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 23 Aug 2018.