Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) (OBEXOME)
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|ClinicalTrials.gov Identifier: NCT02510989|
Recruitment Status : Unknown
Verified February 2018 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was: Recruiting
First Posted : July 29, 2015
Last Update Posted : February 27, 2018
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.
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||40 participants|
|Official Title:||Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing|
|Actual Study Start Date :||July 4, 2016|
|Estimated Primary Completion Date :||July 4, 2018|
|Estimated Study Completion Date :||July 4, 2018|
- Number of patients with syndromic obesity in which exon variants or insertion / deletions are detected in candidate genes and proved to be involved in phenotype. [ Time Frame: Up to 2 years after the last inclusion ]
- Number of shared variants in candidate genes among patients with syndromic obesity [ Time Frame: Up to 2 years after the last inclusion ]
- Number of unshared variants but located in the same candidate gene among patients with syndromic obesity [ Time Frame: Up to 2 years after the last inclusion ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02510989
|Contact: Béatrice DUBERN, MD, PhD||01 44 73 64 46 ext +firstname.lastname@example.org|
|Contact: Karine CLEMENT, MD, PhD||01 42 17 79 28 ext +email@example.com|
|Gastroentérologie et Nutrition Pédiatriques , Hôpital Trousseau||Recruiting|
|Paris, France, 75012|
|Contact: Béatrice DUBERN, MD, PhD 01 44 73 64 46 ext +33 firstname.lastname@example.org|
|Contact: Karine CLEMENT, MD, PhD 01 42 17 79 28 ext +33 email@example.com|
|Principal Investigator:||Béatrice DUBERN, MD, PhD||Assistance Publique - Hôpitaux de Paris|