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

Rett Syndrome Clinical Trial

— RETT  

Official title:

Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02885090
• Other study ID #: 2009-A01147-50
• Status: Completed
• Phase: N/A
• First received: August 23, 2016
• Last updated: August 26, 2016
• Start date: February 2010
• Est. completion date: May 2011

Study information

• Verified date: August 2016
• Source: Central Hospital, Nancy, France
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial Summary

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.

Description:

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 17
• Est. completion date: May 2011
• Est. primary completion date: May 2011
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients: RETT syndrome

• Patients: Female

• Parents: parent of a patients

Study Design

Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science

Related Conditions & MeSH terms

• Rett Syndrome
• Syndrome

Intervention

Procedure:
• 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.

Locations

Country	Name	City	State
France	Handicaps de l'Enfant - Pavillon Ste Marie, CHU St Jacques	Besançon
France	Service de Neuropédiatrie, Hôpital St Jacques, CHU de Besançon	Besançon
France	Unité de génétique, Groupe hospitalier Hôpital Flaubert	Caen
France	Centre de Génétique Hôpital d'Enfants, CHU de Dijon	Dijon
France	Service de neuropédiatrie, CHU Hôpital Gui de Chauliac	Montpellier
France	Laboratoire de Génétique chromosomique, CHU Hôpital l'Archet 2	Nice
France	Service de génétique médicale, CHU Hôpital Purpan	Nice
France	Service de génétique médicale, CHU Hôpital Purpan, CHU de Toulouse	Toulouse
France	Laboratoire de Génétique, Hôpitaux de Brabois, CHU de Nancy	Vandoeuvre les Nancy

Sponsors (1)

Lead Sponsor	Collaborator
Central Hospital, Nancy, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Analysis of chromosomal imbalances through comparative genomic hybridization on DNA microarrays	Search for pathogenic chromosomal imbalance	up to 12 months	No