AzTrials
AzTrials

Mental RetardationREMOBNCT01043198

Microarray Analysis in Syndromic Obesity

A study testing Clinical examination and blood sampling for biological and genetic analysis in people with Mental Retardation and Syndromic Obesity, run by University Hospital, Bordeaux at 6 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages Up to 18 years
Conditions the study is for
Mental Retardation, Syndromic Obesity
What is being tested?
Clinical examination and blood sampling for biological and genetic analysis
How many people
90 participants
Where
6 sitesFrance
Study dates
Feb 2010to Jan 2011
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 18 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Who may be able to join

  • 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…)

Who cannot join

  • common obesity
  • obesity with an identified aetiology

Trial locations and contacts

6 sites in 1 country.

6 sites in 1 country

France6 sites

  • Service de Génétique de médicale - Hopital des enfants - Pellegrin

    Bordeaux, 33076

  • Centre de Génétique Hôpital d'Enfants CHU de Dijon

    Dijon, 21079

  • Génétique Médicale HOPITAL DEBROUSSE HCL

    Lyon, 69005

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

    Montpellier, 34295

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

    Paris, 75019

  • Hopital des Enfants, CHU de Toulouse

    Toulouse, 31059

Other trials in France

About this study

Official title: Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology

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)

Read the 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.

Being tested
Clinical examination and blood sampling for biological and genetic analysis
Keywords
CGH array technology, mental retardation, chromosomal abnormalities, syndromic obesity, obesity
Medical subject headings
Intellectual Disability, Chromosome Aberrations, Obesity

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Clinical examination and blood sampling for biological and genetic analysisGenetic

    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))

What is being measured

The primary outcome is the main question the study is designed to answer.

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

    Measured: 3 - 6 months

Secondary outcomes (5)

  1. prevalence of the main genetic aetiologies of syndromic obesity

    Measured: 3 - 6 months

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

    Measured: 3 - 6 months

  3. Phenotypic description of some "new" syndromes with obesity

    Measured: 3 - 6 months

  4. candidate genes implicated in the development of obesity.

    Measured: 3 - 6 months

  5. Delineation of an aetiological screening protocol in patients with syndromic obesity

    Measured: 3 - 6 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted6 Jan 2010 (estimated)
  2. Study startFeb 2010
  3. Primary completionJan 2011
  4. Study completionJan 2011

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Diagnosis
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
90 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01043198
Sponsor's protocol ID
CHUBX 2009/26
Other IDs
2009-A01031-56
Acronym
REMOB
Status last verified
Jun 2012
First submitted
29 Dec 2009
Last updated
14 May 2026
Results posted
No
Data monitoring committee
Yes

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.

    PubMed 10797032

  • 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.

    PubMed 18097636

  • 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.

    PubMed 15253756

  • 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.

    PubMed 16141005

  • 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.

    PubMed 17621639

  • 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.

    PubMed 15980116

  • 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.

    PubMed 17467974

  • 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.

    PubMed 17057406

  • 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.

    PubMed 23920044

Questions about this trial

What is this clinical trial studying?

A study testing Clinical examination and blood sampling for biological and genetic analysis in people with Mental Retardation and Syndromic Obesity, run by University Hospital, Bordeaux at 6 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 14 May 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Evaluation of the prevalence of cryptic chromosomal imbalance in patients with syndromic obesity of unknown etiology. (time frame: 3 - 6 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01043198, which also lists 9 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2026.

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