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Microarray Analysis in Syndromic Obesity (REMOB)

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ClinicalTrials.gov Identifier: NCT01043198
Recruitment Status : Completed
First Posted : January 6, 2010
Last Update Posted : June 14, 2012
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

Tracking Information
First Submitted Date  ICMJE December 29, 2009
First Posted Date  ICMJE January 6, 2010
Last Update Posted Date June 14, 2012
Study Start Date  ICMJE February 2010
Actual Primary Completion Date January 2011   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: January 5, 2010)
Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology. [ Time Frame: 3 - 6 months ]
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: January 5, 2010)
  • prevalence of the main genetic aetiologies of syndromic obesity [ Time Frame: 3 - 6 months ]
  • Characterization of the main features evocative of subcryptic chromosomal anomalies in this population [ Time Frame: 3 - 6 months ]
  • Phenotypic description of some "new" syndromes with obesity [ Time Frame: 3 - 6 months ]
  • candidate genes implicated in the development of obesity. [ Time Frame: 3 - 6 months ]
  • Delineation of an aetiological screening protocol in patients with syndromic obesity [ Time Frame: 3 - 6 months ]
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Microarray Analysis in Syndromic Obesity
Official Title  ICMJE Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology
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)
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.

Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE
  • Mental Retardation
  • Syndromic Obesity
Intervention  ICMJE 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))
Study Arms  ICMJE Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: June 13, 2012)
90
Original Estimated Enrollment  ICMJE
 (submitted: January 5, 2010)
100
Actual Study Completion Date  ICMJE January 2011
Actual Primary Completion Date January 2011   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE up to 18 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01043198
Other Study ID Numbers  ICMJE CHUBX 2009/26
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party University Hospital, Bordeaux
Study Sponsor  ICMJE University Hospital, Bordeaux
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Marie-Ange DELRUE, MD University Hospital Bordeaux, France
PRS Account University Hospital, Bordeaux
Verification Date June 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP