Severe Intellectual DisabilitySHD-DINCT02862808
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
An observational study of Severe Intellectual Disability, run by Centre Hospitalier Universitaire de Besancon at 1 site in France.
Trial summary
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Severe Intellectual Disability
- How many people
- 18 participants
- Where
- 1 siteFrance
- Study dates
- 15 Mar 2019to 3 Dec 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: Retrospectively included patients presenting severe intellectual disability without a molecular diagnosis, born from consanguineous parents and / or with intra-familial recurrence, whose parents are requesting for molecular diagnosis, in a context of deadlock with conventional techniques
Who may be able to join
- Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ <50) without a molecular diagnosis
- Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
- Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
- DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
- Availability of a signed informed consent
- To be affiliated or beneficiary of French social security/healthcare system
Who cannot join
- Parents in the exclusion period of another study or as provided by the national register of volunteers
- High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing
Trial locations and contacts
1 site in 1 country.
About this study
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases
- Conditions
- Severe Intellectual Disability
- Keywords
- Whole exome sequencing, Molecular diagnostic, Genetic counselling
- Medical subject headings
- Intellectual Disability
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with a molecular diagnostic and diagnostic yield
Measured: up to 12 months
Secondary outcomes (2)
Cost/diagnostic ratio in comparison with conventional techniques
Measured: up to 12 months
Reporting time in comparison with conventional techniques
Measured: up to 12 months
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 start15 Mar 2019
- Primary completion3 Dec 2019
- Study completion3 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Severe Intellectual DisabilityStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de BesanconThe 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
- Case only
- Time perspective
- Retrospective
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Besancon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Paul Kuentz, MD, Principal investigator, Centre Hospitalier Universitaire de Besancon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02862808
- Sponsor's protocol ID
- P/2015/242
- Acronym
- SHD-DI
- Status last verified
- Jul 2020
- First submitted
- 8 Aug 2016
- Last updated
- 22 Jul 2020
- 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 22 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
- ClinicalTrials.gov ID
- NCT02862808
- Acronym / sponsor ID
- SHD-DI / P/2015/242
- Conditions
- Severe Intellectual Disability
- Keywords
- Whole exome sequencing, Molecular diagnostic, Genetic counselling
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de BesanconUniversity, hospital or other
- Study start
- 15 Mar 2019 (actual)
- Primary completion
- 3 Dec 2019 (actual)
- Study completion
- 3 Dec 2019 (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.
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Retrospectively included patients presenting severe intellectual disability without a molecular diagnosis, born from consanguineous parents and / or with intra-familial recurrence, whose parents are requesting for molecular diagnosis, in a context of deadlock with conventional techniques
Key inclusion criteria (6 listed)
- Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ <50) without a molecular diagnosis
- Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
- Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
- DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
- Availability of a signed informed consent
Key exclusion criteria (2 listed)
- Parents in the exclusion period of another study or as provided by the national register of volunteers
- High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of patients with a molecular diagnostic and diagnostic yield
Time frame: up to 12 months
2 secondary outcomes
Cost/diagnostic ratio in comparison with conventional techniques
Time frame: up to 12 months
Reporting time in comparison with conventional techniques
Time frame: up to 12 months
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 22 Jul 2020.
- 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.
Paul Kuentz, MD principal investigator
Centre Hospitalier Universitaire de Besancon
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 Severe Intellectual Disability, run by Centre Hospitalier Universitaire de Besancon 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 6 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 22 Jul 2020. 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?
Number of patients with a molecular diagnostic and diagnostic yield (time frame: up to 12 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 22 Jul 2020.