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Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)

NCT02510989 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 27

Last updated 2022-06-08

No results posted yet for this study

Summary

Syndromic obesity are rare forms of obesity (1% of cases), involving severe obesity and early to multi organ involvement (mental retardation, dysmorphic, sensorineural damage and / or endocrine). To date, the genetic defects are identified in only 5% of cases (Prader-Willi syndrome, Bardet-Biedl syndrome, mutation of leptin or its receptor, the proconvertase-1, proopiomelanocortin or SIM-1 and TRKB genes, high resolution karyotype or abnormal DNA chips, ...). Precocity and severity of obesity are those for a little dependent genetic environment.

The investigators aim is to identify new gene variants in subjects with syndromic obesity sharing common phenotypic features.

Conditions

  • Syndromic Obesity

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Béatrice DUBERN, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-07-04
Primary Completion
2018-07-04
Completion
2018-07-04

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02510989 on ClinicalTrials.gov