Thinness Clinical Trial
— GENOSCANNOfficial title:
Genome Study in Constitutional Thinness
Verified date | July 2020 |
Source | Centre Hospitalier Universitaire de Saint Etienne |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
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 |
Country | Name | City | State |
---|---|---|---|
France | CHU Saint-Etienne | Saint-Etienne |
Lead Sponsor | Collaborator |
---|---|
Centre Hospitalier Universitaire de Saint Etienne |
France,
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 |
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