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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Central Hospital, Nancy, France
ClinicalTrials.gov Identifier:
NCT02885090
First received: August 23, 2016
Last updated: August 26, 2016
Last verified: August 2016
  Purpose

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.


Condition Intervention
Rett Syndrome
Procedure: Blood sampling

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays

Resource links provided by NLM:


Further study details as provided by Central Hospital, Nancy, France:

Primary Outcome Measures:
  • Analysis of chromosomal imbalances through comparative genomic hybridization on DNA microarrays [ Time Frame: up to 12 months ] [ Designated as safety issue: No ]
    Search for pathogenic chromosomal imbalance


Enrollment: 17
Study Start Date: February 2010
Study Completion Date: May 2011
Primary Completion Date: May 2011 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: RTT patient
Blood sampling
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.
Experimental: Parents
Blood sampling. To distinguish between inherited polymorphic variants and potentially deleterious new imbalances.
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.

Detailed 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

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Patients: RETT syndrome
  • Patients: Female
  • Parents: parent of a patients
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02885090

Locations
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, France
Sponsors and Collaborators
Central Hospital, Nancy, France
Investigators
Principal Investigator: Christophe PHILIPPE, Laboratoire de Génétique Médicale, Rue du Morvan, 54511 Vandoeuvre-Les-Nancy Cédex
  More Information

Responsible Party: Central Hospital, Nancy, France
ClinicalTrials.gov Identifier: NCT02885090     History of Changes
Other Study ID Numbers: 2009-A01147-50 
Study First Received: August 23, 2016
Last Updated: August 26, 2016
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
Individual Participant Data  
Plan to Share IPD: No

Additional relevant MeSH terms:
Rett Syndrome
Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System

ClinicalTrials.gov processed this record on December 07, 2016