Sequencing of 14 Genes From Leptin Melanocortin Pathway i... | NCT05938335

Studies
Sequencing of 14 Genes From Leptin Melanocortin Pathway in Severe Obesity in Childhood.

NCT05938335

Sponsor

Central Hospital, Nancy, France

Status

Unknown status

Last Update Posted

Jul 10, 2023Actual

Enrollment

100Estimated

Phase

Not Applicable

Conditions

Obesity, Child

Interventions

sequencing of a panel of 14 genes in leptin melanocortin pathway

Countries

Not provided

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

Status Module

Record Verification Date

Jul 2023

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 1, 2023Estimated

Primary Completion Date

Oct 1, 2024Estimated

Completion Date

Jan 1, 2025Estimated

First Submitted Date

Jun 12, 2023

First Submission Date that Met QC Criteria

Jul 3, 2023

First Posted Date

Jul 10, 2023Actual

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 3, 2023

Last Update Posted Date

Jul 10, 2023Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

RENARD Emeline, Doctor, Central Hospital, Nancy, FrancePrincipal Investigator

Lead Sponsor

Central Hospital, Nancy, FranceOTHER

Collaborators

Not provided

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

About 380 million children and adolescents suffer from overweight and obesity at the global level. Obesity results from the interplay between biological (sex, age, fetal programming, gut microbiota, epigenetics, and genetics) and environmental factors (e.g., unhealthy diet, physical inactivity, stress). Mutations in genes from leptin melanocortin pathway are involved in "non syndromic monogenic obesity", characterized by severe early onset obesity, hyperphagia and endocrine deficiencies. Exact frequencies of mutation in these genes are not precisely evaluated in french children with severe obesity. Moreover new treatment, such seltmelanotide are avalaible in case of certain mutation, leading to a significative weight loss in treated patients.

Detailed Description

Obesity is a global health concern that affected more than 650 million adult people and more than 380 million children and adolescents worldwide, with no signs of slowing down despite major investments in health policy. Obestiy is a multifactorial disease, but 40 to 75% of body mass index (BMI) variation is explained by genetic factors.

Mutations in genes from leptin melanocortin pathway lead to "non syndromic monogenic obesity", characterized by severe early onset obesity, hyperphagia and endocrine deficiencies. This pathway plays a central role in regulating mammalian food intake, energy expenditure and body weight regulation. Somes genes are well characterized such LEP gene, LEPR gene, or MC4R but others have been recently described as ADCY3, SIM1, SH2B1, NTRK2, BDNF, KSR2.

The frequency of these mutations are not precisely estimated in a group of french children with severe obesity.

Moreover, a precocious identification of these mutations, could afford, in certain case the possibility of a efficient treatment with setmelanotide, leading to a significant weight loss in treated patients.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
severe obese children	Experimental	children with severe obesity with BMI > 3sds	Genetic: sequencing of a panel of 14 genes in leptin melanocortin pathway

Interventions

Name	Type	Description	Arm Group Labels	Other Names
sequencing of a panel of 14 genes in leptin melanocortin pathway	Genetic	sequencing (NGS) of a panel of 14 genes in leptin melanocortin pathway in french children with severe obesity

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
frequency of mutations of genes from leptin melanocortin pathway	Evaluating of the frequency of mutations of 14 genes from leptin melanocortin pathway (LEP, LEPR, POMC, PCSK1, MC3R, MC4R, MRAP2, ADCY3, SIM1, SH2B1, NTRK2, BDNF, KSR2) in a group of french children with severe obesity.	1 year

Secondary Outcomes

Measure	Description	Time Frame
Clinical characteristics of children with severe obesity followed in CHRU of Nancy	Description of the clinical characteristics : height in cm BMI	1 year
Clinical characteristics of children with mutations of leptin melanocortin pathway

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

severe obesity with BMI > 3SDS

Exclusion Criteria:

genetic obesity (Prader Willi syndrome, Bardet Biedl syndrome, X fragile syndrome, Alstrom syndrome)
BMI < 3 SDS
age < 6 months
monogenic non syndromic obesity, with mutation in genes of leptin melanocortin pathway previously diagnosed
cushing syndrome

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Months

Maximum Age

18 Years

Standard Ages

ChildAdult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Emeline RENARD	Contact	+33383154500		e.renard@chru-nancy.fr

Overall Officials

Not provided

Locations

Not provided

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D063766	Pediatric Obesity

Ancestor Terms

ID	Term
D009765	Obesity
D050177	Overweight
D044343	Overnutrition
D009748	Nutrition Disorders

Browse Leaves

Not provided

Browse Branches

Not provided