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CompletedNCT02525328GENOSCANNUpdated Jul 10, 2020

Genome Study in Constitutional Thinness

An observational study in Thinness and Leanness, sponsored by Centre Hospitalier Universitaire de Saint Etienne. Completed at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2020-07-10.

Sponsored by Centre Hospitalier Universitaire de Saint Etienne · Observational

Study type
Observational
Model
Family-based
Time perspective
Prospective
Enrollment
210
Ages
18 Years and older
Sex
All
01

Study 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. 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.

02

Conditions studied

  • Thinness
  • Leanness

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Keywords

  • Constitutional Thinness
  • linkage study
  • genome wide scan (GWAS)
03

In context

Thinness

66 studies on the registry are indexed under Thinness; 11 are open to participants now.

This study's enrollment of 210 is below the median of 275 across 22 observational studies indexed under Thinness.

Browse Thinness studies →

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne is the lead sponsor of 597 studies on the registry; 127 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Probability sample

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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • 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 :

    • grade 2 or 3 of thinness according WHO classification
    • women, \< 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

Exclusion criteria

Exclusion Criteria:

  • CT subjects:

    • smoking > 5 cigarettes / day
    • history of emaciating pathologies
    • intense physical activity > 7 hours / week
  • For all subjects :

    • refuse of written consent
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

BMI (body mass index)

Weight in kilograms divided by height in metres squared. Example: 70 kg and 1.75 m gives 70 ÷ (1.75 × 1.75) ≈ 22.9.

What counts as overweight or obesity differs between countries (some use lower cut-offs), so go by the range the study states.

05

Study design

Observational model
Family-based
Time perspective
Prospective
Enrollment
210 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • CT subjects

    blood or saliva specimen

    Other: blood or saliva specimen

  • subjects without CT

    blood or saliva specimen

    Other: blood or saliva specimen

Interventions

  • Otherblood or saliva specimen

    blood or saliva specimen is sampled for DNA extraction in CT family's members

06

What researchers measure

Primary outcomes

  1. 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.

    Time frame: 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

    Time frame: day 1

07

Study locations

1 site
  • CHU Saint-Etienne
    Saint-Etienne, 42055, France
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 10, 2020, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT02525328
Responsible party
Sponsor
First posted
Aug 17, 2015
Start date
Oct 21, 2010
Primary completion
Nov 11, 2019
Completion
Nov 11, 2019
Last update
Jul 10, 2020

Study contacts

Bruno Estour, MD PhD
principal investigator · CHU Saint-Etienne
Bogdan GALUSCA, MD PhD
principal investigator · CHU Saint-Etienne

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2020. You cannot join it, but the record below documents what was studied.

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