ThinnessGENOSCANNNCT02525328
Genome Study in Constitutional Thinness
An observational study of Thinness and Leanness, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
Trial summary
Constitutional thinness (CT) is a recently defined entity as a differential diagnosis of anorexia nervosa (AN), considered to be the most frequent cause of low body mass index (BMI) in young women. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- What is being tested?
- blood or saliva specimen
- How many people
- 210 participants
- Where
- 1 siteFrance
- Study dates
- 21 Oct 2010to 11 Nov 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Fifty families including at least 2 well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification) and members without CT.
Who may be able to join
- For all subjects:
- age > 18 yrs
- affiliation to health insurance
- member of a family including at least 2 CT members and overall 3 evaluable members over 2 generations
- written and signed consent
- For CT subjects :
Show all 15Show fewer
- grade 2 or 3 of thinness according WHO classification
- women, BMI < 17 kg/m² at 20-30 yrs or < 19 for older subjects
- men, BMI < 18 kg/m² at 20-30 yrs or < 20 for older subjects
- absence of DSM criteria for anorexia nervosa
- young women : normal menses and fat mass percentage 15 % ; absence of DSM criteria for anorexia nervosa
- men : normal testosterone level
- For subjects without CT :
- women, BMI > 19 kg/m²
- men, BMI > 20 kg/m²
Who cannot join
- CT subjects:
- smoking > 5 cigarettes / day
- history of emaciating pathologies
- intense physical activity > 7 hours / week
- For all subjects :
- refuse of written consent
Trial locations and contacts
1 site in 1 country.
About this study
Constitutional thinness (CT) is a recently defined entity as a differential diagnosis of anorexia nervosa (AN), considered to be the most frequent cause of low body mass index (BMI) in young women. CT subjects present no AN psychiatric traits, preserved menses, no biological signs of undernutrition and balanced energy metabolism despite a Body Mass Index (BMI) <17 kg / m².
CT familial aggregation, low body mass without a hormonal explanation, and specific appetite regulation profile suggest a specific genetic profile in these subjects.
Read more
Objective: A family linkage study in order to identify genes involved in the constitutional thinness phenotype by using genome wide scan (GWAS) techniques Studied population: Fifty families including at least one well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification). Blood or saliva is sampled for DNA extraction.
Perspectives: Revealing eventual abnormalities could lead to a more precise diagnosis of constitutional thinness and new hypothesis in understanding extreme bodyweight mechanisms.
- Being tested
- blood or saliva specimen
- Keywords
- Constitutional Thinness, linkage study, genome wide scan (GWAS)
- Medical subject headings
- Thinness
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood or saliva specimenOther
blood or saliva specimen is sampled for DNA extraction in CT family's members
| Study group | Role | What they receive |
|---|---|---|
| CT subjects | blood or saliva specimen Receives: Other: blood or saliva specimen | |
| subjects without CT | blood or saliva specimen Receives: Other: blood or saliva specimen |
What is being measured
The primary outcome is the main question the study is designed to answer.
chromosome regions' abnormalities
The linkage study is performed in order to identify one or several chromosome regions linked the constitutional thinness phenotype by using genome wide scan (GWAS) techniques in CT families members.
Measured: day 1
Secondary outcomes (1)
genetic markers
Identify within upper mentioned regions more specific genetic markers (mutation/variant) to characterize genes involved in CT phenotype
Measured: day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2015 (estimated)
- Study start21 Oct 2010
- Primary completion11 Nov 2019
- Study completion11 Nov 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ThinnessStudies 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 210 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Saint Etienne
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bruno Estour, MD PhD, Principal investigator, Centre Hospitalier Universitaire de Saint EtienneBogdan GALUSCA, MD PhD, Principal investigator, Centre Hospitalier Universitaire de Saint Etienne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02525328
- Sponsor's protocol ID
- 0908129
- Other IDs
- 2010-A00051-38
- Acronym
- GENOSCANN
- Status last verified
- Jul 2020
- First submitted
- 13 Aug 2015
- Last updated
- 10 Jul 2020
- 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 10 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genome Study in Constitutional Thinness
- ClinicalTrials.gov ID
- NCT02525328
- Acronym / sponsor ID
- GENOSCANN / 0908129
- Keywords
- Constitutional Thinness, linkage study, genome wide scan (GWAS)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 210 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Study start
- 21 Oct 2010 (actual)
- Primary completion
- 11 Nov 2019 (actual)
- Study completion
- 11 Nov 2019 (actual)
- First posted
- 17 Aug 2015 (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.
Constitutional thinness (CT) is a recently defined entity as a differential diagnosis of anorexia nervosa (AN), considered to be the most frequent cause of low body mass index (BMI) in young women. CT subjects present no AN psychiatric traits, preserved menses, no biological signs of undernutrition and balanced energy metabolism despite a Body Mass Index (BMI) <17 kg / m².
CT familial aggregation, low body mass without a hormonal explanation, and specific appetite regulation profile suggest a specific genetic profile in these subjects.
Objective: A family linkage study in order to identify genes involved in the constitutional thinness phenotype by using genome wide scan (GWAS) techniques Studied population: Fifty families including at least one well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification). Blood or saliva is sampled for DNA extraction.
Perspectives: Revealing eventual abnormalities could lead to a more precise diagnosis of constitutional thinness and new hypothesis in understanding extreme bodyweight mechanisms.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CT subjects | – | Other: blood or saliva specimenblood or saliva specimen |
| subjects without CT | – | Other: blood or saliva specimenblood or saliva specimen |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Fifty families including at least 2 well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification) and members without CT.
Key inclusion criteria (15 listed)
- For all subjects:
- For CT subjects :
- For subjects without CT :
Key exclusion criteria (6 listed)
- CT subjects:
- For all subjects :
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 |
|---|---|---|
| blood or saliva specimenblood or saliva specimen is sampled for DNA extraction in CT family's members | Other | CT subjects, subjects without CT |
Primary outcome
chromosome regions' abnormalities
Time frame: day 1
The linkage study is performed in order to identify one or several chromosome regions linked the constitutional thinness phenotype by using genome wide scan (GWAS) techniques in CT families members.
1 secondary outcome
genetic markers
Time frame: day 1
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 10 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.
Bruno Estour, MD PhD principal investigator
Centre Hospitalier Universitaire de Saint Etienne
Bogdan GALUSCA, MD PhD principal investigator
Centre Hospitalier Universitaire de Saint Etienne
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 Thinness and Leanness, run by Centre Hospitalier Universitaire de Saint Etienne 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 15 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 10 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?
chromosome regions' abnormalities (time frame: day 1). 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 10 Jul 2020.