YY1 Related DisorderNCT04381715
Better Delineation of YY1 Related Phenotype and Epigenetic Signatures.
An observational study of YY1 Related Disorder, run by University Hospital, Montpellier at 1 site in France.
Trial summary
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- YY1 Related Disorder
- What is being tested?
- Epigenetic signatures
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 1 May 2020to 1 Dec 2020
- 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: Individuals with YY1 intragenic pathogenic SNV (Single Nucleotide Variant)
Who may be able to join
- YY1 intragenic pathogenic SNV (Single Nucleotide Variant)
Who cannot join
- no pathogenic SNV in YY1
- no consent for the study
Trial locations and contacts
1 site in 1 country.
Pauline MONIN, Resident contact
France1 site, 1 recruiting
- Recruiting
UH Montpellier
Montpellier, 34295
David GENEVIEVE, d-genevieve@chu-montpellier.fr
Pauline MONIN, Resident, p-monin@chu-montpellier.fr
About this study
Official title: YY1 Related Disorder : Clinical Phenotype, Neuropsychological Profile, Brain MRI Characteristics and Epigenetic Signatures.
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities.
The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with YY1 intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France.
Read more
Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab.
Between 2019 and 2020, the investigators have already recruited data from individuals with YY1 pathogenic variants from several European and American genetic centres.
Read the detailed description
The investigators aim to better understand and delineate the genetic syndrome YY1 (a.k.a. Gabriele-de-Vries syndrome).
This genetic disorder was described in June 2017 in the American Journal of Human Genetics (PMID 28575647).
Since this first publication of 23 individuals carrying the pathogenic mutation YY1, another individual has been reported in the literature (PMID 30549423).
In addition, the first paper focused on the clinical description as well as the effect of pathogenic YY1 variations in chromatin regulation.
The investigators are seeking to better define the phenotype of individuals with pathogenic variants of YY1, to better understand intellectual functioning as well as the strengths and weaknesses of intellectual functioning by collecting standardized neuropsychological assessments already performed such as WPPSI/WISC and WAIS. For this purpose, the investigators will gather clinical and neuropsychological data already carried out in the context of care.
The investigators also aim to gather the cerebral MRI scans already performed in order to better delimit the cerebral anomalies observed in individuals and if the sequence is adapted, the investigators will perform VBM studies.
Finally, the investigators will attempt to identify an epigenetic signature in this genetic disease. To this end, the investigators will collect genomic DNA from peripheral blood already collected for genetic analysis and send an anonymized batch of samples to our collaborator, Dr. Bekim Sadicovik. Dr. Bekim Sadicovik and his team will compare the epigenetic DNA methylation-type markers with the corresponding sex and age controls. If specific probes are abnormally methylated in YY1 individuals, this will determine a disease-specific epigenetic signature. The investigators will then be able to propose an epigenetic signature for individuals with uncharacterized YY1 variations (class 3, VUS). This method will make it possible to define whether the variation is responsible for the disease or not without going through functional analysis steps that are difficult to implement routinely.
The expected benefits are a better understanding of YY1 disease, keys to neuropsychological rehabilitation, a better understanding of human brain functions, the possibility of proposing an epigenetic signature for people in whom it is not possible to decide whether a variation in the YY1 gene is pathological or not
- Conditions
- YY1 Related Disorder
- Being tested
- Epigenetic signatures
- Keywords
- YY1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Epigenetic signaturesGenetic
Epigenetic signatures (Dr Sadikovic' lab, London, Ontario, Canada)
| Study group | Role | What they receive |
|---|---|---|
| YY1 | YY1 intragenic pathogenic variant Receives: Genetic: Epigenetic signatures |
What is being measured
The primary outcome is the main question the study is designed to answer.
YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description
YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description
Measured: 1 day
Evolution of genetic data
Evolution of genetic data
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 May 2020
- Study start1 May 2020
- Primary completion1 Dec 2020 (estimated)
- Study completion1 Dec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for YY1 Related DisorderStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Other
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- David GENEVIEVE, Principal investigator, Department of Medical Genetics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04381715
- Sponsor's protocol ID
- RECHMPL20_0272
- Status last verified
- May 2020
- First submitted
- 6 May 2020
- Last updated
- 14 May 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- YY1 Related Disorder : Clinical Phenotype, Neuropsychological Profile, Brain MRI Characteristics and Epigenetic Signatures.
- ClinicalTrials.gov ID
- NCT04381715
- Acronym / sponsor ID
- RECHMPL20_0272
- Conditions
- YY1 Related Disorder
- Keywords
- YY1
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 1 May 2020 (actual)
- Primary completion
- 1 Dec 2020 (estimated)
- Study completion
- 1 Dec 2020 (estimated)
- First posted
- 11 May 2020 (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.
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities.
The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with YY1 intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France.
Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab.
Between 2019 and 2020, the investigators have already recruited data from individuals with YY1 pathogenic variants from several European and American genetic centres.
Detailed description
The investigators aim to better understand and delineate the genetic syndrome YY1 (a.k.a. Gabriele-de-Vries syndrome).
This genetic disorder was described in June 2017 in the American Journal of Human Genetics (PMID 28575647).
Since this first publication of 23 individuals carrying the pathogenic mutation YY1, another individual has been reported in the literature (PMID 30549423).
In addition, the first paper focused on the clinical description as well as the effect of pathogenic YY1 variations in chromatin regulation.
The investigators are seeking to better define the phenotype of individuals with pathogenic variants of YY1, to better understand intellectual functioning as well as the strengths and weaknesses of intellectual functioning by collecting standardized neuropsychological assessments already performed such as WPPSI/WISC and WAIS. For this purpose, the investigators will gather clinical and neuropsychological data already carried out in the context of care.
The investigators also aim to gather the cerebral MRI scans already performed in order to better delimit the cerebral anomalies observed in individuals and if the sequence is adapted, the investigators will perform VBM studies.
Finally, the investigators will attempt to identify an epigenetic signature in this genetic disease. To this end, the investigators will collect genomic DNA from peripheral blood already collected for genetic analysis and send an anonymized batch of samples to our collaborator, Dr. Bekim Sadicovik. Dr. Bekim Sadicovik and his team will compare the epigenetic DNA methylation-type markers with the corresponding sex and age controls. If specific probes are abnormally methylated in YY1 individuals, this will determine a disease-specific epigenetic signature. The investigators will then be able to propose an epigenetic signature for individuals with uncharacterized YY1 variations (class 3, VUS). This method will make it possible to define whether the variation is responsible for the disease or not without going through functional analysis steps that are difficult to implement routinely.
The expected benefits are a better understanding of YY1 disease, keys to neuropsychological rehabilitation, a better understanding of human brain functions, the possibility of proposing an epigenetic signature for people in whom it is not possible to decide whether a variation in the YY1 gene is pathological or not
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| YY1 | – | Genetic: Epigenetic signaturesYY1 intragenic pathogenic variant |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with YY1 intragenic pathogenic SNV (Single Nucleotide Variant)
Key inclusion criteria (1 listed)
- YY1 intragenic pathogenic SNV (Single Nucleotide Variant)
Key exclusion criteria (2 listed)
- no pathogenic SNV in YY1
- no consent for the study
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 |
|---|---|---|
| Epigenetic signaturesEpigenetic signatures (Dr Sadikovic' lab, London, Ontario, Canada) | Genetic | YY1 |
Primary outcome
YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description
Time frame: 1 day
YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description
Evolution of genetic data
Time frame: 1 day
Evolution of genetic data
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2020.
- Individual participant dataSharing planned: Undecided. NC
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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.
Pauline MONIN, Resident contact
David GENEVIEVE principal investigator
Department of Medical Genetics
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 YY1 Related Disorder, run by University Hospital, Montpellier 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 1 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: status not confirmed, as of the sponsor's last update on 14 May 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact David GENEVIEVE, MH PD (04 67 33 61 04 ext. 33, d-genevieve@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description (time frame: 1 day). The study lists 2 primary outcomes in all. 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 14 May 2020.