New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization (RETT)
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| ClinicalTrials.gov Identifier: NCT02885090 |
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Recruitment Status :
Completed
First Posted : August 31, 2016
Last Update Posted : August 31, 2016
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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.
| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Rett Syndrome | Procedure: Blood sampling | Not Applicable |
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
| Study Type : | Interventional (Clinical Trial) |
| Actual Enrollment : | 17 participants |
| Allocation: | Non-Randomized |
| Intervention Model: | Single Group Assignment |
| Masking: | None (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 |
| Study Start Date : | February 2010 |
| Actual Primary Completion Date : | May 2011 |
| Actual Study Completion Date : | May 2011 |
| Arm | Intervention/treatment |
|---|---|
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Experimental: RTT patient
Blood sampling
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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. |
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Experimental: Parents
Blood sampling. To distinguish between inherited polymorphic variants and potentially deleterious new imbalances.
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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. |
- Analysis of chromosomal imbalances through comparative genomic hybridization on DNA microarrays [ Time Frame: up to 12 months ]Search for pathogenic chromosomal imbalance
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
- Patients: RETT syndrome
- Patients: Female
- Parents: parent of a patients
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02885090
| 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 | |
| Principal Investigator: | Christophe PHILIPPE, | Laboratoire de Génétique Médicale, Rue du Morvan, 54511 Vandoeuvre-Les-Nancy Cédex |
| Responsible Party: | Central Hospital, Nancy, France |
| ClinicalTrials.gov Identifier: | NCT02885090 |
| Other Study ID Numbers: |
2009-A01147-50 |
| First Posted: | August 31, 2016 Key Record Dates |
| Last Update Posted: | August 31, 2016 |
| Last Verified: | August 2016 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
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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 |