Working… Menu

Microarray Analysis in Syndromic Obesity (REMOB)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01043198
Recruitment Status : Completed
First Posted : January 6, 2010
Last Update Posted : June 14, 2012
Information provided by (Responsible Party):
University Hospital, Bordeaux

Brief Summary:
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 or disease Intervention/treatment Phase
Mental Retardation Syndromic Obesity Genetic: Clinical examination and blood sampling for biological and genetic analysis Not Applicable

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.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 90 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology
Study Start Date : February 2010
Actual Primary Completion Date : January 2011
Actual Study Completion Date : January 2011

Resource links provided by the National Library of Medicine

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))

Primary Outcome Measures :
  1. Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology. [ Time Frame: 3 - 6 months ]

Secondary Outcome Measures :
  1. prevalence of the main genetic aetiologies of syndromic obesity [ Time Frame: 3 - 6 months ]
  2. Characterization of the main features evocative of subcryptic chromosomal anomalies in this population [ Time Frame: 3 - 6 months ]
  3. Phenotypic description of some "new" syndromes with obesity [ Time Frame: 3 - 6 months ]
  4. candidate genes implicated in the development of obesity. [ Time Frame: 3 - 6 months ]
  5. Delineation of an aetiological screening protocol in patients with syndromic obesity [ Time Frame: 3 - 6 months ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

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 identifier (NCT number): NCT01043198

Layout table for location information
Service de Génétique de médicale - Hopital des enfants - Pellegrin
Bordeaux, France, 33076
Centre de Génétique Hôpital d'Enfants CHU de Dijon
Dijon, France, 21079
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
Layout table for investigator information
Principal Investigator: Marie-Ange DELRUE, MD University Hospital Bordeaux, France

Layout table for additonal information
Responsible Party: University Hospital, Bordeaux Identifier: NCT01043198    
Other Study ID Numbers: CHUBX 2009/26
First Posted: January 6, 2010    Key Record Dates
Last Update Posted: June 14, 2012
Last Verified: June 2012
Keywords provided by University Hospital, Bordeaux:
CGH array technology
mental retardation
chromosomal abnormalities
syndromic obesity
Additional relevant MeSH terms:
Layout table for MeSH terms
Intellectual Disability
Nutrition Disorders
Body Weight
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Neurodevelopmental Disorders
Mental Disorders