Microarray Analysis in Syndromic Obesity (REMOB)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux
ClinicalTrials.gov Identifier:
NCT01043198
First received: December 29, 2009
Last updated: June 13, 2012
Last verified: June 2012
  Purpose

Comparative genomic hybridization (CGH) array technology has been used in numerous studies on mental retardation, and few chromosomal abnormalities have been identified in patients. Because chromosomal abnormalities have still been associated with obesity, we can expect that syndromic obesity is also associated with small deletions/duplications. Characterization of deleted or duplicated loci in these obese patients would mean that these loci include genes implicated in obesity. This will permit to propose new gene(s) involved in obesity. (In french: Caractérisation phénotypique et recherche de REManiements chromosomiques chez des patients présentant une OBésité syndromique de cause non identifiée : REMOB)


Condition Intervention
Mental Retardation
Syndromic Obesity
Genetic: Clinical examination and blood sampling for biological and genetic analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology

Resource links provided by NLM:


Further study details as provided by University Hospital, Bordeaux:

Primary Outcome Measures:
  • Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology. [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • prevalence of the main genetic aetiologies of syndromic obesity [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]
  • Characterization of the main features evocative of subcryptic chromosomal anomalies in this population [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]
  • Phenotypic description of some "new" syndromes with obesity [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]
  • candidate genes implicated in the development of obesity. [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]
  • Delineation of an aetiological screening protocol in patients with syndromic obesity [ Time Frame: 3 - 6 months ] [ Designated as safety issue: No ]

Enrollment: 90
Study Start Date: February 2010
Study Completion Date: January 2011
Primary Completion Date: January 2011 (Final data collection date for primary outcome measure)
Intervention Details:
    Genetic: Clinical examination and blood sampling for biological and genetic analysis

    Clinical examination and precise description of the phenotype (questionnaire)

    • Standardized screening with :
    • radiological (hands, feet, spine ; and renal ultrasonography)
    • biological (hormonal, metabolic, and "basic" genetic investigations (karyotype, FISH 22q11.2, Fragile X, and other depending on the clinical data))
Detailed Description:

With the introduction of array comparative genomic hybridization (CGH), genome-wide high resolution analysis for DNA copy number alterations became feasible. This technology has been principally used in patients with mental retardation. Depending on the eligibility criteria and resolution of the array, around 10 % of patients with mental retardation are found with cryptic chromosomal imbalance. This figure arises 20 % for patients with mental retardation and multiple congenital anomalies. Alteration of the lipid metabolism and/or regulation of satiety, obesity (except in presence of other "exogen" factors) can be considered as a developmental disorder. Also, different syndromes with obesity have been associated with chromosomal abnormalities, such as 1p36 deletion syndrome, 2q37 deletion syndrome, chromosome 14 maternal disomy … So we can expect that syndromic obesity is similarly associated with sub cryptic chromosomal abnormalities. Some "isolated" patients with obesity have been described with cryptic chromosomal imbalance found by array CGH, but no study has been realized in cohorts of patients selected for syndromic obesity.

Characterization of cryptic chromosomal anomaly(ies) in a patient will also be useful to precise the management and follow-up of the patient and to give the family an adapted genetic counselling.

We will define a cohort of patients with syndromic obesity and propose them to realize a first screening looking for the "common" aetiologies of syndromic obesity. If this screening is normal, array CGH will be realized. This analysis implies a blood sampling of 5 ml in patient and his parents.

Genes present at the deleted or duplicated loci characterized in the patients will be study to determine if some could be specifically implicated in the development of obesity. These same genes could be implicated in isolated obesity. Our study will be also useful to precise the aetiological screening of syndromic obesity, and determine the place of array-CGH.

  Eligibility

Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • children (under 18 year-old)
  • obesity (following IOTF definition)
  • at least one criteria among :

    • mental retardation
    • facial dysmorphism
    • at least one major malformation (uro-genital, cardiac, skeletal, cerebral, ophthalmologic…)

Exclusion Criteria:

  • common obesity
  • obesity with an identified aetiology
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01043198

Locations
France
Service de Génétique de médicale - Hopital des enfants - Pellegrin
Bordeaux, France, 33076
Centre de Génétique Hôpital d'Enfants CHU de Dijon
Dijon, France, 21079
Génétique Médicale HOPITAL DEBROUSSE HCL
Lyon, France, 69005
Département de Génétique Médicale Centre de référence anomalies du développement Centre de compétence maladies osseuses constitutionnelles Hôpital Arnaud de Villeneuve CHRU Montpellier
Montpellier, France, 34295
Département de Génétique Hôpital Robert DEBRE Centre de Référence Maladies Rares "Anomalies du Développement & Syndromes Malformatifs"
Paris, France, 75019
Hopital des Enfants, CHU de Toulouse
Toulouse, France, 31059
Sponsors and Collaborators
University Hospital, Bordeaux
Investigators
Principal Investigator: Marie-Ange DELRUE, MD University Hospital Bordeaux, France
  More Information

Publications:

Responsible Party: University Hospital, Bordeaux
ClinicalTrials.gov Identifier: NCT01043198     History of Changes
Other Study ID Numbers: CHUBX 2009/26
Study First Received: December 29, 2009
Last Updated: June 13, 2012
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Bordeaux:
CGH array technology
mental retardation
chromosomal abnormalities
syndromic obesity
obesity

Additional relevant MeSH terms:
Intellectual Disability
Obesity
Body Weight
Mental Disorders
Mental Disorders Diagnosed in Childhood
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Nutrition Disorders
Overnutrition
Overweight
Signs and Symptoms

ClinicalTrials.gov processed this record on October 21, 2014