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

NCT02885090 | Completed

• 1 other identifier: 2009-A01147-50
• Study Type: interventional
• Target: 17
• Locations: 1 country
• Sites: 9

Brief 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.

Conditions

Rett Syndrome

Outcome Measures

Primary Outcomes (1)

• Analysis of chromosomal imbalances through comparative genomic hybridization on DNA microarrays

  Search for pathogenic chromosomal imbalance

  up to 12 months

Study Arms (2)

RTT patient

EXPERIMENTAL

Blood sampling

Procedure: Blood sampling

Parents

EXPERIMENTAL

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

Procedure: Blood sampling

Interventions

Blood sampling 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; RTT patient

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients: RETT syndrome
• Patients: Female
• Parents: parent of a patients

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Study Sites (9)

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

Besançon, France

Location

Service de Neuropédiatrie, Hôpital St Jacques, CHU de Besançon

Besançon, France

Location

Unité de génétique, Groupe hospitalier Hôpital Flaubert

Caen, France

Location

Centre de Génétique Hôpital d'Enfants, CHU de Dijon

Dijon, France

Location

Service de neuropédiatrie, CHU Hôpital Gui de Chauliac

Montpellier, France

Location

Laboratoire de Génétique chromosomique, CHU Hôpital l'Archet 2

Nice, France

Location

Service de génétique médicale, CHU Hôpital Purpan

Nice, France

Location

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

Toulouse, France

Location

Laboratoire de Génétique, Hôpitaux de Brabois, CHU de Nancy

Vandœuvre-lès-Nancy, France

Location

MeSH Terms

Conditions

Rett Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Christophe PHILIPPE,

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 23, 2016
• First Posted: August 31, 2016
• Study Start: February 1, 2010
• Primary Completion: May 1, 2011
• Study Completion: May 1, 2011
• Last Updated: August 31, 2016

Record last verified: 2016-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (9)