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

NCT05938335 | Unknown

• 1 other identifier: 2023PI
• Study Type: interventional
• Target: 100
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Obesity, Child

Outcome Measures

Primary Outcomes (1)

• 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 (12)

• Clinical characteristics of children with severe obesity followed in CHRU of Nancy

  1 year

• Clinical characteristics of children with mutations of leptin melanocortin pathway

  1 year

• Clinical characteristics of children with mutations of leptin melanocortin pathway

  1 year

• Clinical characteristics of children with mutations of leptin melanocortin pathway

  1 year

• Clinical characteristics of children with mutations of leptin melanocortin pathway

  1 year

Study Arms (1)

severe obese children

EXPERIMENTAL

children with severe obesity with BMI \> 3sds

Genetic: sequencing of a panel of 14 genes in leptin melanocortin pathway

Interventions

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

severe obese children

Eligibility Criteria

• Age: 6 Months - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• severe obesity with BMI \> 3SDS

You may not qualify if:

• 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

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

MeSH Terms

Conditions

Pediatric Obesity

Condition Hierarchy (Ancestors)

Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Emeline RENARD

CONTACT

+33383154500; e.renard@chru-nancy.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Doctor

Study Record Dates

• First Submitted: June 12, 2023
• First Posted: July 10, 2023
• Study Start: October 1, 2023
• Primary Completion: October 1, 2024
• Study Completion: January 1, 2025
• Last Updated: July 10, 2023

Record last verified: 2023-07