Genome Study in Constitutional Thinness | NCT02525328

Studies
Genome Study in Constitutional Thinness

NCT02525328

Sponsor

Centre Hospitalier Universitaire de Saint Etienne

Status

Completed

Last Update Posted

Jul 10, 2020Actual

Enrollment

210Actual

Phase

Not provided

Conditions

Thinness
Leanness

Interventions

blood or saliva specimen

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2010-A00051-38	Other Identifier	ANSM

Status Module

Record Verification Date

Jul 2020

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 21, 2010Actual

Primary Completion Date

Nov 11, 2019Actual

Completion Date

Nov 11, 2019Actual

First Submitted Date

Aug 13, 2015

First Submission Date that Met QC Criteria

Aug 13, 2015

First Posted Date

Aug 17, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 9, 2020

Last Update Posted Date

Jul 10, 2020Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

210Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
CT subjects		blood or saliva specimen	Other: blood or saliva specimen
subjects without CT		blood or saliva specimen	Other: blood or saliva specimen

Interventions

Name	Type	Description	Arm Group Labels	Other Names
blood or saliva specimen	Other	blood or saliva specimen is sampled for DNA extraction in CT family's members	CT subjects subjects without CT

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
genetic markers	Identify within upper mentioned regions more specific genetic markers (mutation/variant) to characterize genes involved in CT phenotype	day 1

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

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.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Bruno Estour, MD PhD	Centre Hospitalier Universitaire de Saint Etienne	Principal Investigator
Bogdan GALUSCA, MD PhD	Centre Hospitalier Universitaire de Saint Etienne	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
CHU Saint-Etienne		Saint-Etienne		42055	France

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

ID	Term
D013851	Thinness

ID	Term
D001835	Body Weight
D012816	Signs and Symptoms
D013568	Pathological Conditions, Signs and Symptoms

Intervention Browse Module

MeSH Terms

ID	Term
D001800	Blood Specimen Collection

Ancestor Terms

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

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Browse Branches

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