NCT02525328

Genome Study in Constitutional Thinness

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 210 (actual)
• Sponsor: Centre Hospitalier Universitaire de Saint Etienne · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Thinness
• Leanness

Interventions

Type	Name	Description
OTHER	blood or saliva specimen	blood or saliva specimen is sampled for DNA extraction in CT family's members

Timeline

• Start date: 2010-10-21
• Primary completion: 2019-11-11
• Completion: 2019-11-11
• First posted: 2015-08-17
• Last updated: 2020-07-10

Locations

1 site across 1 country: France