- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01043198
Microarray Analysis in Syndromic Obesity (REMOB)
Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology
Study Overview
Status
Conditions
Intervention / Treatment
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
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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-
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Bordeaux, France, 33076
- Service de Génétique de médicale - Hopital des enfants - Pellegrin
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Dijon, France, 21079
- Centre de Génétique Hôpital d'Enfants CHU de Dijon
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Lyon, France, 69005
- Génétique Médicale HOPITAL DEBROUSSE HCL
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Montpellier, France, 34295
- Département de Génétique Médicale Centre de référence anomalies du développement Centre de compétence maladies osseuses constitutionnelles Hôpital Arnaud de Villeneuve CHRU Montpellier
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Paris, France, 75019
- Département de Génétique Hôpital Robert DEBRE Centre de Référence Maladies Rares "Anomalies du Développement & Syndromes Malformatifs"
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Toulouse, France, 31059
- Hopital des Enfants, CHU de Toulouse
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology.
Time Frame: 3 - 6 months
|
3 - 6 months
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
prevalence of the main genetic aetiologies of syndromic obesity
Time Frame: 3 - 6 months
|
3 - 6 months
|
|
Characterization of the main features evocative of subcryptic chromosomal anomalies in this population
Time Frame: 3 - 6 months
|
3 - 6 months
|
|
Phenotypic description of some "new" syndromes with obesity
Time Frame: 3 - 6 months
|
3 - 6 months
|
|
candidate genes implicated in the development of obesity.
Time Frame: 3 - 6 months
|
3 - 6 months
|
|
Delineation of an aetiological screening protocol in patients with syndromic obesity
Time Frame: 3 - 6 months
|
3 - 6 months
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Marie-Ange DELRUE, MD, University Hospital Bordeaux, France
Publications and helpful links
General Publications
- Cole TJ, Bellizzi MC, Flegal KM, Dietz WH. Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ. 2000 May 6;320(7244):1240-3. doi: 10.1136/bmj.320.7244.1240.
- Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007 Jun;17(3):182-92. doi: 10.1016/j.gde.2007.04.009. Epub 2007 Apr 30.
- Ichihara S, Yamada Y. Genetic factors for human obesity. Cell Mol Life Sci. 2008 Apr;65(7-8):1086-98. doi: 10.1007/s00018-007-7453-8.
- Delrue MA, Michaud JL. Fat chance: genetic syndromes with obesity. Clin Genet. 2004 Aug;66(2):83-93. doi: 10.1111/j.0009-9163.2004.00300.x.
- Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet. 2005 Sep;42(9):699-705. doi: 10.1136/jmg.2004.029637.
- Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, Carver V, Benke P, Mundy P, Elsas LJ. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat. 2007 Nov;28(11):1124-32. doi: 10.1002/humu.20581.
- Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet. 2006 Feb;43(2):180-6. doi: 10.1136/jmg.2005.032268. Epub 2005 Jun 24.
- Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z. Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation. Horm Res. 2007;67(3):105-10. doi: 10.1159/000096419. Epub 2006 Oct 19.
- Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication. Mol Genet Metab. 2013 Sep-Oct;110(1-2):90-7. doi: 10.1016/j.ymgme.2013.07.013. Epub 2013 Jul 20.
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Neurologic Manifestations
- Nervous System Diseases
- Mental Disorders
- Pathologic Processes
- Nutrition Disorders
- Overnutrition
- Body Weight
- Neurobehavioral Manifestations
- Neurodevelopmental Disorders
- Overweight
- Pathological Conditions, Signs and Symptoms
- Nutritional and Metabolic Diseases
- Signs and Symptoms
- Obesity
- Intellectual Disability
- Chromosome Aberrations
- Investigative Techniques
- Therapeutics
- Specimen Handling
- Clinical Laboratory Techniques
- Diagnostic Techniques and Procedures
- Diagnosis
- Punctures
- Surgical Procedures, Operative
- Health Services
- Health Care Facilities Workforce and Services
- Preventive Health Services
- Complex Mixtures
- Behavior Control
- Immobilization
- Genetic Techniques
- Genetic Services
- Diagnostic Services
- Biological Products
- Restraint, Physical
- Genetic Testing
- Blood Specimen Collection
Other Study ID Numbers
- CHUBX 2009/26
- 2009-A01031-56 (Other Identifier: ANSM)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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