Genome Study in Constitutional Thinness

Thinness Clinical Trial

— GENOSCANN  

Official title:

Genome Study in Constitutional Thinness

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02525328
• Other study ID #: 0908129
• Secondary ID: 2010-A00051-38
• Status: Completed
• Start date: October 21, 2010
• Est. completion date: November 11, 2019

Study information

• Verified date: July 2020
• Source: Centre Hospitalier Universitaire de Saint Etienne
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 210
• Est. completion date: November 11, 2019
• Est. primary completion date: November 11, 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Leanness
• Thinness

Intervention

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

Locations

Country	Name	City	State
France	CHU Saint-Etienne	Saint-Etienne

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Saint Etienne

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	day 1
Secondary	genetic markers	Identify within upper mentioned regions more specific genetic markers (mutation/variant) to characterize genes involved in CT phenotype	day 1