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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 : Recruiting
First Posted : July 29, 2015
Last Update Posted : February 27, 2018
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief 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.


Condition or disease
Syndromic Obesity

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Family-Based
Time Perspective: Other
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

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. Number of shared variants in candidate genes among patients with syndromic obesity [ Time Frame: Up to 2 years after the last inclusion ]
  2. 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
Tubes of blood for genetic analysis (20 ml of blood/subject)


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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
10 unrelated subjects sharing phenotypic features will be selected as their two parents and one unaffected sibling corresponding to a total of 40 subjects.
Criteria

Inclusion Criteria:

  • Patient age ≥ 1 year with no upper age limit, with early onset (age of obesity onset <6 years) and severe (Z-score of BMI ≥ + 3DS) obesity associated with psychomotor retardation or mental , food impulsiveness, +/- dysmorphy and / or endocrine abnormalities

Exclusion Criteria:

  • Identified syndromic obesity

Information from the National Library of Medicine

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


Contacts
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Contact: Béatrice DUBERN, MD, PhD 01 44 73 64 46 ext +33 beatrice.dubern@aphp.fr
Contact: Karine CLEMENT, MD, PhD 01 42 17 79 28 ext +33 karine.clement@aphp.fr

Locations
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France
Gastroentérologie et Nutrition Pédiatriques , Hôpital Trousseau Recruiting
Paris, France, 75012
Contact: Béatrice DUBERN, MD, PhD    01 44 73 64 46 ext +33    beatrice.dubern@aphp.fr   
Contact: Karine CLEMENT, MD, PhD    01 42 17 79 28 ext +33    karine.clement@aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Béatrice DUBERN, MD, PhD Assistance Publique - Hôpitaux de Paris

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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02510989     History of Changes
Other Study ID Numbers: NI130008
2014-A00626-41 ( Other Identifier: IDRCB )
First Posted: July 29, 2015    Key Record Dates
Last Update Posted: February 27, 2018
Last Verified: February 2018
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Syndromic obesity
Genes
Exome
Additional relevant MeSH terms:
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Obesity
Overnutrition
Nutrition Disorders
Overweight
Body Weight
Signs and Symptoms