Monogenic ObesityGENOBENCT06113523
Genetic Research of Monogenic Obesity in a Pediatric Cohort With Severe and Early Onset Obesity (GENOBE)
An observational study of Monogenic Obesity and Non Syndromic Obesity, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
Non-syndromic monogenic obesity is a group of rare diseases characterized by severe and early onset obesity. Genetic characterization of these rare forms is important to target patients who may benefit from a personnalized care (new treatments, prognosis, adapted hygienic and dietary rules). Read more about this study
- Who is it for?
- Ages 2 to 6 yearsHealthy volunteers can take part
- Conditions the study is for
- Monogenic Obesity, Non Syndromic Obesity
- What is being tested?
- monogenic obesity
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 1 Feb 2024to Feb 2026
- 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 2 to 6 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: * Patient cohort : Patients already tested for monogenic obesity with the 71 genes panel. * Control cohort : Patients tested for other indication than monogenic obesity in the lab. The DNA samples will be sequenced for the 71 obesity genes especially for the study.
Who may be able to join
- Body mass index above the International Obesity Task Force 30 curve by age 6.
- Consent for genetic testing signed with agreement to use secondary data for research purposes.
- Exclusion criteria : Opposition of the patient to the research - This opposition of the patient must be received by the investigator of the center within a maximum of 1 month after the sending of the information note.
- o For Control cohort :
- Body mass index under 25 kg/m2 after age 18 and no history of obesity.
- Signed consent for genetic testing with agreement to use biological samples and secondary data for research purposes.
Who cannot join
- Opposition of the patient to the research - This opposition of the patient must be received by the investigator of the center within a maximum of 1 month after the sending of the information note.
- Degraded DNA
Trial locations and contacts
1 site in 1 country.
France1 site
Centre Hospitalier Universitaire de Bordeaux
Bordeaux, 33400
Louis LEBRETON, MD
About this study
Non-syndromic monogenic obesity is a group of rare diseases characterized by severe and early onset obesity. Genetic characterization of these rare forms is important to target patients who may benefit from a personnalized care (new treatments, prognosis, adapted hygienic and dietary rules). This study aims to expand the diagnostic analysis from five to 71 genes and additionnaly to refine the causal role of some genes not widely tested in routine practice.
Read the detailed description
Obesity is a frequent disease mainly caused by environmental/polygenic factors and more rarely caused by the alteration of a single gene ("monogenic obesity"). The diagnosis of these rare forms can lead to personalized management (new treatments, prognosis, adapted hygienic and dietary rules) and family screening. The genetic analysis of monogenic obesity classically includes the five best known genes of the leptin-melanocortin pathway: LEP, LEPR, POMC, PCSK1 and MC4R. The limitation to these five genes allows the diagnosis of only 1 to 3% of monogenic obesity. The use of a genetic panel covering more known causes of monogenic obesity on a pediatric cohort of severe and early obesity will allow to evaluate the relevance of enlarged analyses to adapt the management of these rare diseases. In addition, the penetrance and mode of transmission of some genes related to monogenic obesity remain to be precised.
The study aims to analyze the sequencing of 71 genes related to monogenic obesity in a cohort of 100 patients with early (<6 years) and severe obesity. The clinical and biological phenotype of each case will be documented by retrospective medical datas. Concurrent analysis of a cohort of 100 patients with normal BMI (" control ") aims to better define the genes and transmission patterns with significant penetrance in obesity.
The study will include a first part aiming at including patients and controls in the study for which the Biochemistry laboratory of the Bordeaux University Hospital already has a DNA sample (maximum duration 24 months). The patient cohort will be composed of cases that have already benefited from the genetic analysis of the panel of 71 genes as part of their care. The control cohort will be sequenced for the study. The list of 71 genes comes from the recommendations of the French National Plan of Care regarding obesity of rare causes, adding the genes involved in Bardet Biedl Syndrome. The second step of the work will be to collect the clinical, biological and genetic datas of the patient and control cohorts. The third step will be the datas analyse.
- Conditions
- Monogenic Obesity, Non Syndromic Obesity
- Being tested
- monogenic obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
monogenic obesityBiological
The DNA samples will be sequenced for the 71 obesity genes especially for the study.
| Study group | Role | What they receive |
|---|---|---|
| Patient cohort | Patients already tested for monogenic obesity with the 71 genes panel. | |
| Control cohort | Patients tested for other indication than monogenic obesity in the lab. The DNA samples will be sequenced for the 71 obesity genes especially for the study. Receives: Biological: monogenic obesity |
What is being measured
The primary outcome is the main question the study is designed to answer.
Positive rate of patients diagnosed with definite monogenic obesity
Positive rate of patients diagnosed with definite monogenic obesity by genetic analysis with the 71 genes panel.
Measured: inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2023
- Study start1 Feb 2024 (estimated)
- Primary completionFeb 2026 (estimated)
- Study completionFeb 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Monogenic ObesityStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06113523
- Sponsor's protocol ID
- CHUBX 2023/01
- Acronym
- GENOBE
- Status last verified
- Oct 2023
- First submitted
- 27 Oct 2023
- Last updated
- 2 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Research of Monogenic Obesity in a Pediatric Cohort With Severe and Early Onset Obesity (GENOBE)
- ClinicalTrials.gov ID
- NCT06113523
- Acronym / sponsor ID
- GENOBE / CHUBX 2023/01
- Conditions
- Monogenic Obesity, Non Syndromic Obesity
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 1 Feb 2024 (estimated)
- Primary completion
- Feb 2026 (estimated)
- Study completion
- Feb 2026 (estimated)
- First posted
- 2 Nov 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.
Non-syndromic monogenic obesity is a group of rare diseases characterized by severe and early onset obesity. Genetic characterization of these rare forms is important to target patients who may benefit from a personnalized care (new treatments, prognosis, adapted hygienic and dietary rules). This study aims to expand the diagnostic analysis from five to 71 genes and additionnaly to refine the causal role of some genes not widely tested in routine practice.
Detailed description
Obesity is a frequent disease mainly caused by environmental/polygenic factors and more rarely caused by the alteration of a single gene ("monogenic obesity"). The diagnosis of these rare forms can lead to personalized management (new treatments, prognosis, adapted hygienic and dietary rules) and family screening. The genetic analysis of monogenic obesity classically includes the five best known genes of the leptin-melanocortin pathway: LEP, LEPR, POMC, PCSK1 and MC4R. The limitation to these five genes allows the diagnosis of only 1 to 3% of monogenic obesity. The use of a genetic panel covering more known causes of monogenic obesity on a pediatric cohort of severe and early obesity will allow to evaluate the relevance of enlarged analyses to adapt the management of these rare diseases. In addition, the penetrance and mode of transmission of some genes related to monogenic obesity remain to be precised.
The study aims to analyze the sequencing of 71 genes related to monogenic obesity in a cohort of 100 patients with early (<6 years) and severe obesity. The clinical and biological phenotype of each case will be documented by retrospective medical datas. Concurrent analysis of a cohort of 100 patients with normal BMI (" control ") aims to better define the genes and transmission patterns with significant penetrance in obesity.
The study will include a first part aiming at including patients and controls in the study for which the Biochemistry laboratory of the Bordeaux University Hospital already has a DNA sample (maximum duration 24 months). The patient cohort will be composed of cases that have already benefited from the genetic analysis of the panel of 71 genes as part of their care. The control cohort will be sequenced for the study. The list of 71 genes comes from the recommendations of the French National Plan of Care regarding obesity of rare causes, adding the genes involved in Bardet Biedl Syndrome. The second step of the work will be to collect the clinical, biological and genetic datas of the patient and control cohorts. The third step will be the datas analyse.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient cohort | – | –Patients already tested for monogenic obesity with the 71 genes panel. |
| Control cohort | – | Biological: monogenic obesityPatients tested for other indication than monogenic obesity in the lab. The DNA samples will be sequenced for the 71 obesity genes especially for the study. |
Who may qualify
- Ages
- 2 to 6 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- * Patient cohort : Patients already tested for monogenic obesity with the 71 genes panel. * Control cohort : Patients tested for other indication than monogenic obesity in the lab. The DNA samples will be sequenced for the 71 obesity genes especially for the study.
Key inclusion criteria (6 listed)
- Body mass index above the International Obesity Task Force 30 curve by age 6.
- Consent for genetic testing signed with agreement to use secondary data for research purposes.
- Exclusion criteria : Opposition of the patient to the research - This opposition of the patient must be received by the investigator of the center within a maximum of 1 month after the sending of the information note.
- Body mass index under 25 kg/m2 after age 18 and no history of obesity.
- Signed consent for genetic testing with agreement to use biological samples and secondary data for research purposes.
Key exclusion criteria (2 listed)
- Opposition of the patient to the research - This opposition of the patient must be received by the investigator of the center within a maximum of 1 month after the sending of the information note.
- Degraded DNA
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 |
|---|---|---|
| monogenic obesityThe DNA samples will be sequenced for the 71 obesity genes especially for the study. | Biological | Control cohort |
Primary outcome
Positive rate of patients diagnosed with definite monogenic obesity
Time frame: inclusion visit
Positive rate of patients diagnosed with definite monogenic obesity by genetic analysis with the 71 genes panel.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2023.
- 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.
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 Monogenic Obesity and Non Syndromic Obesity, run by University Hospital, Bordeaux 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: status not confirmed, as of the sponsor's last update on 2 Nov 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Louis LEBRETON, MD (+335 57 82 21 78, louis.lebreton@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Positive rate of patients diagnosed with definite monogenic obesity (time frame: inclusion visit). 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 2 Nov 2023; AzTrials last refreshed its copy on 8 Nov 2026.