Severe Intellectual DisabilityHUGODIMSNCT02136849
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
An observational study of Severe Intellectual Disability, run by Nantes University Hospital at 5 sites in France.
Trial summary
Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Severe Intellectual Disability
- How many people
- 228 participants
- Where
- 5 sitesFrance
- Study dates
- Sep 2014to Jan 2016
- 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: We planned to include 50 trios (patients + parents) in the study. This number appears to be sufficient to achieve the defined objectives and according to the literature data (Rauch et al, 2012). The study population is the population affected by severe intellectual disability according to the commonly accepted definition (IQ <35), and patients with severe or moderate ID (IQ <50) associated with other clinical signs but no obvious syndromic form known . In 2 cases, the parents of patients will not be affected by DI. The recruitment will be made during genetic counseling. Many patients with DI meet the criteria of the study are already being explored in different centers. For these patients, the DNA of the index case and parents is already available. Families will therefore re-contacted to invite them to participate in this study.
Who may be able to join
- Patients with severe intellectual disability (IQ <35 ) or moderate (IQ <50) isolated or syndromic presentation but undiagnosed . The diagnosis is established during genetic counseling of a 6 CHU interregion
- Lack of family history ( parents). We are interested in this project to patients who do not have family history in order to increase the probability of identifying a de novo mutation . We do not however exclude the hypothesis for some patients a mechanism recessive autosomal or X-linked .
- Recruitment in 6 CHU HUGO . Patients are required to have been seen in genetics in a 6 CHU interregion . Molecular analyzes of the Fragile X syndrome and the CGH technique must be negative.
- Indication sequencing exomique adopted by the Scientific Committee. The Scientific Committee HUGODIMS project role to select patients whose DNA will be studied in order to optimize the chances of success for sequencing . This selection must take into account clinical parameters , but also genetic parameters ( potential inbreeding ) . The files will be selected by videoconferencing at the end of the monthly meeting of CLAD . The methodologist of the study will be invited to videoconferencing.
- specific consent obtained for the study.
Who cannot join
- Parents patient with moderate or severe intellectual disability disagree with the preferred hypothesis of de novo mutation or recessive transmission mechanism.
- Form with known syndromic diagnosis can be targeted molecular studies (clinical signs).
- Cause molecular DI identified by targeted molecular analysis or CGH.
- Explicit refusal to participate in the study of the patient, parents, or one of the two parents.
- Any other indication that intellectual disability.
- The parents of the patient or the patient may be removed.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
France5 sites
Angers University Hospital
Angers, 49933
Brest University Hospital
Brest, 29609
Poitiers University Hospital
Poitiers, 86021
Rennes University Hospital
Rennes, 35203
Tours University Hospital
Tours, 37044
About this study
Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. The "exome" approach by high-throughput sequencing (NGS) has emerged as the technique of choice for identifying and comparing the exome of the child to the parent. We wish to evaluate this approach and its contribution in the diagnostic management of 50 patients with DI seen in genetics in 6 CHU Great West. Genomics platform IBISA / Biogenouest will provide technological and bioinformatics support this project.
- Conditions
- Severe Intellectual Disability
- Keywords
- severe intellectual disability, genetic, de novo exome
- 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 for which a mutation responsible for the de novo patients DI has been identified
Measured: 18 months
Secondary outcomes (2)
Number of patients for whom the study of exomes revealed mutations in genes compatible with the mode of recessive autosomal recessive or X-linked chromosome
Measured: 18 months
Number of de novo mutations (loss of function, missense or indels) probably pathogens identified are not known to be involved in the DI genes.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2014 (estimated)
- Study startSep 2014
- Primary completionJan 2016
- Study completionJan 2016
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 Nantes University HospitalThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 228 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Nantes Genomics platform
- Responsible party
- Sponsor
- Investigators
- Stéphane Bézieau, Pr, Principal investigator, Nantes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02136849
- Sponsor's protocol ID
- RC14_0107
- Acronym
- HUGODIMS
- Status last verified
- Mar 2016
- First submitted
- 9 May 2014
- Last updated
- 12 Dec 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
- ClinicalTrials.gov ID
- NCT02136849
- Acronym / sponsor ID
- HUGODIMS / RC14_0107
- Conditions
- Severe Intellectual Disability
- Keywords
- severe intellectual disability, genetic, de novo exome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 228 participants (actual)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Collaborators
- Nantes Genomics platform
- Study start
- Sep 2014 (actual)
- Primary completion
- Jan 2016 (actual)
- Study completion
- Jan 2016 (actual)
- First posted
- 13 May 2014 (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.
Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. The "exome" approach by high-throughput sequencing (NGS) has emerged as the technique of choice for identifying and comparing the exome of the child to the parent. We wish to evaluate this approach and its contribution in the diagnostic management of 50 patients with DI seen in genetics in 6 CHU Great West. Genomics platform IBISA / Biogenouest will provide technological and bioinformatics support this project.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We planned to include 50 trios (patients + parents) in the study. This number appears to be sufficient to achieve the defined objectives and according to the literature data (Rauch et al, 2012). The study population is the population affected by severe intellectual disability according to the commonly accepted definition (IQ <35), and patients with severe or moderate ID (IQ <50) associated with other clinical signs but no obvious syndromic form known . In 2 cases, the parents of patients will not be affected by DI. The recruitment will be made during genetic counseling. Many patients with DI meet the criteria of the study are already being explored in different centers. For these patients, the DNA of the index case and parents is already available. Families will therefore re-contacted to invite them to participate in this study.
Key inclusion criteria (5 listed)
- Patients with severe intellectual disability (IQ <35 ) or moderate (IQ <50) isolated or syndromic presentation but undiagnosed . The diagnosis is established during genetic counseling of a 6 CHU interregion
- Lack of family history ( parents). We are interested in this project to patients who do not have family history in order to increase the probability of identifying a de novo mutation . We do not however exclude the hypothesis for some patients a mechanism recessive autosomal or X-linked .
- Recruitment in 6 CHU HUGO . Patients are required to have been seen in genetics in a 6 CHU interregion . Molecular analyzes of the Fragile X syndrome and the CGH technique must be negative.
- Indication sequencing exomique adopted by the Scientific Committee. The Scientific Committee HUGODIMS project role to select patients whose DNA will be studied in order to optimize the chances of success for sequencing . This selection must take into account clinical parameters , but also genetic parameters ( potential inbreeding ) . The files will be selected by videoconferencing at the end of the monthly meeting of CLAD . The methodologist of the study will be invited to videoconferencing.
- specific consent obtained for the study.
Key exclusion criteria (6 listed)
- Parents patient with moderate or severe intellectual disability disagree with the preferred hypothesis of de novo mutation or recessive transmission mechanism.
- Form with known syndromic diagnosis can be targeted molecular studies (clinical signs).
- Cause molecular DI identified by targeted molecular analysis or CGH.
- Explicit refusal to participate in the study of the patient, parents, or one of the two parents.
- Any other indication that intellectual disability.
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 for which a mutation responsible for the de novo patients DI has been identified
Time frame: 18 months
2 secondary outcomes
Number of patients for whom the study of exomes revealed mutations in genes compatible with the mode of recessive autosomal recessive or X-linked chromosome
Time frame: 18 months
Number of de novo mutations (loss of function, missense or indels) probably pathogens identified are not known to be involved in the DI genes.
Time frame: 18 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 12 Dec 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.
Stéphane Bézieau, Pr principal investigator
Nantes University Hospital
5 sites 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 Nantes University Hospital at 5 sites 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 6 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 12 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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 for which a mutation responsible for the de novo patients DI has been identified (time frame: 18 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 12 Dec 2018.