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New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization

NCT ID: NCT02885090

Last Updated: 2016-08-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

17 participants

Study Classification

INTERVENTIONAL

Study Start Date

2010-02-28

Study Completion Date

2011-05-31

Brief Summary

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Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations in the gene MECP2. It is a genetically heterogeneous pathology. CDKL5 and FOXG1 have been recently discovered being involved in other forms of RTT. However, at least 5% of typical forms and more other atypical forms are not linked to any of 3 genes known to be involved in the disease.

The purpose of this study is to identify new genes involved in molecular etiology of typical and atypical forms of RTT.

Detailed Description

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Search for pathogenic chromosomal imbalance through comparative genomic hybridization (aCGH) on DNA microarrays will be done in a group of patients having typical or atypical forms of RTT without known mutations in MECP2, CDKL5 et FOXG1B genes.

After imbalance confirmation by qPCR, the pathogenic potential of the segmental aneusomy will be assigned according to the interpretation of aCGH technique-dedicated DECEPHER, BACH and GVD databases. Analysis of parents will allow distinguishing between inherited polymorphic variants and potentially deleterious new imbalances.

In case of a new imbalance, a bioinformatics approach will look for candidate genes that will be possibly confirmed by classic mutation screening (sequencing and PCR) in all typical and atypical cases of RTT present in the cohort.

The identification of new genes involved in RTT will ameliorate the molecular diagnosis of the disease and genetic counseling for families. This project will allow progression in comprehension of physiopathological mechanisms of cerebral development abnormalities

Conditions

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Rett Syndrome

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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RTT patient

Blood sampling

Group Type EXPERIMENTAL

Blood sampling

Intervention Type PROCEDURE

In children: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml and 2 PAXgene tubes of 2.5 ml (max 0.8-0.9 ml blood/kg) In parents: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml.

Parents

Blood sampling. To distinguish between inherited polymorphic variants and potentially deleterious new imbalances.

Group Type EXPERIMENTAL

Blood sampling

Intervention Type PROCEDURE

In children: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml and 2 PAXgene tubes of 2.5 ml (max 0.8-0.9 ml blood/kg) In parents: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml.

Interventions

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Blood sampling

In children: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml and 2 PAXgene tubes of 2.5 ml (max 0.8-0.9 ml blood/kg) In parents: 2 EDTA tubes of 7 ml, 1 Heparin Li tube of 5 ml.

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* Patients: RETT syndrome
* Patients: Female
* Parents: parent of a patients
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Central Hospital, Nancy, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Christophe PHILIPPE,

Role: PRINCIPAL_INVESTIGATOR

Laboratoire de Génétique Médicale, Rue du Morvan, 54511 Vandoeuvre-Les-Nancy Cédex

Locations

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Handicaps de l'Enfant - Pavillon Ste Marie, CHU St Jacques

Besançon, , France

Site Status

Service de Neuropédiatrie, Hôpital St Jacques, CHU de Besançon

Besançon, , France

Site Status

Unité de génétique, Groupe hospitalier Hôpital Flaubert

Caen, , France

Site Status

Centre de Génétique Hôpital d'Enfants, CHU de Dijon

Dijon, , France

Site Status

Service de neuropédiatrie, CHU Hôpital Gui de Chauliac

Montpellier, , France

Site Status

Laboratoire de Génétique chromosomique, CHU Hôpital l'Archet 2

Nice, , France

Site Status

Service de génétique médicale, CHU Hôpital Purpan

Nice, , France

Site Status

Service de génétique médicale, CHU Hôpital Purpan, CHU de Toulouse

Toulouse, , France

Site Status

Laboratoire de Génétique, Hôpitaux de Brabois, CHU de Nancy

Vandœuvre-lès-Nancy, , France

Site Status

Countries

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France

Other Identifiers

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2009-A01147-50

Identifier Type: -

Identifier Source: org_study_id