Microarray Analysis in Syndromic Obesity

NCT01043198 | Completed DMC

• 1 other identifier: CHUBX 2009/26
• Study Type: interventional
• Target: 90
• Locations: 1 country
• Sites: 6

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)

Conditions

Mental Retardation; Syndromic Obesity

Keywords

CGH array technology; mental retardation; chromosomal abnormalities; syndromic obesity; obesity

Outcome Measures

Primary Outcomes (1)

• Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology.

  3 - 6 months

Secondary Outcomes (5)

• prevalence of the main genetic aetiologies of syndromic obesity

  3 - 6 months

• Characterization of the main features evocative of subcryptic chromosomal anomalies in this population

  3 - 6 months

• Phenotypic description of some "new" syndromes with obesity

  3 - 6 months

• candidate genes implicated in the development of obesity.

  3 - 6 months

• Delineation of an aetiological screening protocol in patients with syndromic obesity

  3 - 6 months

Interventions

Clinical examination and blood sampling for biological and genetic analysis GENETIC

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))

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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…)

You may not qualify if:

• common obesity
• obesity with an identified aetiology

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (6)

Service de Génétique de médicale - Hopital des enfants - Pellegrin

Bordeaux, 33076, France

Location

Centre de Génétique Hôpital d'Enfants CHU de Dijon

Dijon, 21079, France

Location

Génétique Médicale HOPITAL DEBROUSSE HCL

Lyon, 69005, France

Location

Département de Génétique Médicale Centre de référence anomalies du développement Centre de compétence maladies osseuses constitutionnelles Hôpital Arnaud de Villeneuve CHRU Montpellier

Montpellier, 34295, France

Location

Département de Génétique Hôpital Robert DEBRE Centre de Référence Maladies Rares "Anomalies du Développement & Syndromes Malformatifs"

Paris, 75019, France

Location

Hopital des Enfants, CHU de Toulouse

Toulouse, 31059, France

Location

Related Publications (8)

• 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.

  PMID: 10797032 BACKGROUND

• 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.

  PMID: 18097636 BACKGROUND

• 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.

  PMID: 15253756 BACKGROUND

• 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.

  PMID: 16141005 BACKGROUND

• 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.

  PMID: 17621639 BACKGROUND

• 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.

  PMID: 15980116 BACKGROUND

• 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.

  PMID: 17467974 BACKGROUND

• 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.

  PMID: 17057406 BACKGROUND

MeSH Terms

Conditions

Intellectual Disability; Chromosome Aberrations; Obesity

Interventions

Restraint, Physical; Blood Specimen Collection; Biological Products; Genetic Testing

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders; Pathologic Processes; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight

Intervention Hierarchy (Ancestors)

Behavior Control; Therapeutics; Immobilization; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Complex Mixtures; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Marie-Ange DELRUE, MD

  University Hospital Bordeaux, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 29, 2009
• First Posted: January 6, 2010
• Study Start: February 1, 2010
• Primary Completion: January 1, 2011
• Study Completion: January 1, 2011
• Last Updated: June 14, 2012

Record last verified: 2012-06

Locations

FR (6)