Genome Study in Constitutional Thinness

NCT02525328 | Completed

• 2 other identifiers: 09081292010-A00051-38
• Study Type: observational
• Target: 210
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Constitutional Thinness; linkage study; genome wide scan (GWAS)

Outcome Measures

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.

  day 1

Secondary Outcomes (1)

• genetic markers

  day 1

Study Arms (2)

CT subjects

blood or saliva specimen

Other: blood or saliva specimen

subjects without CT

blood or saliva specimen

Other: blood or saliva specimen

Interventions

blood or saliva specimen OTHER

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

CT subjects; subjects without CT

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead

Study Sites (1)

CHU Saint-Etienne

Saint-Etienne, 42055, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood or saliva specimen in families including at least one well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification). Family's members are : CT subjects and subjects without CT.

MeSH Terms

Conditions

Thinness

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Bruno Estour, MD PhD

  CHU SAINT-ETIENNE

  PRINCIPAL INVESTIGATOR

• Bogdan GALUSCA, MD PhD

  CHU SAINT-ETIENNE

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2015
• First Posted: August 17, 2015
• Study Start: October 21, 2010
• Primary Completion: November 11, 2019
• Study Completion: November 11, 2019
• Last Updated: July 10, 2020

Record last verified: 2020-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)