Down SyndromeBioJeLNCT05767203
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
A study testing Biological samplings in people with Down Syndrome and Intellectual Disability, run by Institut Jerome Lejeune at 1 site in France.
Trial summary
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome, Intellectual Disability
- What is being tested?
- Biological samplings
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2,000 participants
- Where
- 1 siteFrance
- Study dates
- 1 Sep 2022to 31 Dec 2032
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Patient diagnosed with an intellectual disability of genetic origin
- Patient of all ages coming for consultation at the Institut Jérôme Lejeune
- Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project.
- Patient affiliated to a social security scheme
Who cannot join
- Parents unable to find out about the constraints related to the study
- Refusal of informed patient participation
- Pregnant, parturient and nursing mothers
- Persons deprived of their liberty by judicial or administrative decision
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Institut Jérôme Lejeune
Paris, 75015
Sophie Durand, +33156586300, sophie.durand@institutlejeune.org
About this study
Official title: Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.
Read the detailed description
Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.
- Conditions
- Down Syndrome, Intellectual Disability
- Being tested
- Biological samplings
- Medical subject headings
- Down Syndrome, Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological samplingsOther
Blood and/or skin samples
| Study group | Role | What they receive |
|---|---|---|
| Patients with Down syndrome or other Intellectual deficiency of genetic origin | Experimental | Patients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune. Receives: Other: Biological samplings |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of biomarkers in blood
Analysis of biomarkers from blood samples taken during the visit
Measured: 10 years
Identification of biomarkers from skin samples
Analysis of biomarkers from skin samples taken during the visit
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2023
- Study start1 Sep 2022
- Primary completion1 Sep 2032 (estimated)
- Study completion31 Dec 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Jerome Lejeune
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05767203
- Sponsor's protocol ID
- BioJeL
- Acronym
- BioJeL
- Status last verified
- Mar 2023
- First submitted
- 7 Feb 2023
- Last updated
- 14 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 14 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
- ClinicalTrials.gov ID
- NCT05767203
- Acronym / sponsor ID
- BioJeL / BioJeL
- Conditions
- Down Syndrome, Intellectual Disability
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Institut Jerome LejeuneUniversity, hospital or other
- Study start
- 1 Sep 2022 (actual)
- Primary completion
- 1 Sep 2032 (estimated)
- Study completion
- 31 Dec 2032 (estimated)
- First posted
- 14 Mar 2023 (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.
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.
Detailed description
Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Down syndrome or other Intellectual deficiency of genetic origin | Experimental | Other: Biological samplingsPatients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Patient diagnosed with an intellectual disability of genetic origin
- Patient of all ages coming for consultation at the Institut Jérôme Lejeune
- Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project.
- Patient affiliated to a social security scheme
Key exclusion criteria (4 listed)
- Parents unable to find out about the constraints related to the study
- Refusal of informed patient participation
- Pregnant, parturient and nursing mothers
- Persons deprived of their liberty by judicial or administrative decision
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 |
|---|---|---|
| Biological samplingsBlood and/or skin samples | Other | Patients with Down syndrome or other Intellectual deficiency of genetic origin |
Primary outcome
Identification of biomarkers in blood
Time frame: 10 years
Analysis of biomarkers from blood samples taken during the visit
Identification of biomarkers from skin samples
Time frame: 10 years
Analysis of biomarkers from skin samples taken during the visit
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Mar 2023.
- Individual participant dataSharing planned: Undecided
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biological samplings in people with Down Syndrome and Intellectual Disability, run by Institut Jerome Lejeune 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 4 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: looking for participants now, as of the sponsor's last update on 14 Mar 2023. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophie Durand (+33156586300, sophie.durand@institutlejeune.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of biomarkers in blood (time frame: 10 years). 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 Mar 2023.