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OpenTrials
Completed

NCT Number: NCT02525328

Genome Study in Constitutional Thinness

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.

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Key information

Conditions

Thinness Body Weight Leanness Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Saint-Etienne

Saint-Etienne, 42055, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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, 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

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

Treatment and study plan

blood or saliva specimen

Other

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

Primary outcomes

  1. 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.

Secondary outcomes

  1. genetic markers

    Time frame: day 1

    Identify within upper mentioned regions more specific genetic markers (mutation/variant) to characterize genes involved in CT phenotype

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne

Other

Registry information

Acronym: GENOSCANN

Important dates

Study start
2010
Primary completion
2019
Study completion
2019
First posted
Aug 17, 2015
Registry last updated
Jul 10, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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