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Report for Clinical Trial NCT01703962

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Non Invasive IDentification of Gliomas With IDH1 Mutation by Free Plasmatic DNA Analysis, 2-hydroxyglutarate Dosage in the Urines and 2-hydroxyglutarate Detection by Brain SPEctro-MRI: Diagnostic and Follow-up Application (IDASPE)

The recurrent mutation IDH1Arg132His leads to the cellular accumulation of D-2-hydroxyglutarate (2-HG), thus representing a diagnostic marker (this change is almost specific for gliomas) and prognostic (mutated gliomas have longer survival) of interest. The main objective is to identify the patients with IDH1 mutated glioma by three complementary approaches -genetic (identification of IDH1 mutation in plasmatic DNA), biochemical (2-HG dosage in the urine of patients) and radiological (2-HG

NCT01703962 Non Invasive Diagnosis of Glioma
MeSH: Glioma
HPO: Glioma



Time Perspective: Prospective

Case Control


There is one SNP

SNPs


1 R132H

The main objective is to identify the patients with IDH1 mutated glioma by three complementary approaches -genetic (identification of IDH1 mutation in plasmatic DNA), biochemical (2-HG dosage in the urine of patients) and radiological (2-HG Inclusion Criteria: Inclusion Criteria - Affiliated to Health Insurance regimen (sécurité sociale) - Patient of 18 years or more - written informed consent - Glioma grade II or III histologically proven - Frozen samples available - Known status IDH1/IDH2 - Presence of a measurable residual tumor (> 2 cm in diameter FLAIR) - Karnofsky Performance Status (KPS)> 60 Exclusion Criteria: - Contraindication to MRI * - The rare patients with IDH2 mutation or with non Arg132His IDH1 mutation will be excluded - Inability to provide informed consent - Patient under guardianship or deprived of liberty by court Inclusion Criteria: Inclusion Criteria - Affiliated to Health Insurance regimen (sécurité sociale) - Patient of 18 years or more - written informed consent - Glioma grade II or III histologically proven - Frozen samples available - Known status IDH1/IDH2 - Presence of a measurable residual tumor (> 2 cm in diameter FLAIR) - Karnofsky Performance Status (KPS)> 60 Exclusion Criteria: - Contraindication to MRI * - The rare patients with IDH2 mutation or with non Arg132His IDH1 mutation will be excluded - Inability to provide informed consent - Patient under guardianship or deprived of liberty by court Non Invasive Diagnosis of Glioma Glioma Our preliminary results indicate an extremely high amount of D-2HG in gliomas and CSF of the patients, and therefore the possibility to detect its presence by spectro-MRI, and to establish a non-invasive diagnosis of glioma with IDH1 mutation. --- Arg132His ---

The main objective is to identify the patients with IDH1 mutated glioma by three complementary approaches -genetic (identification of IDH1 mutation in plasmatic DNA), biochemical (2-HG dosage in the urine of patients) and radiological (2-HG Inclusion Criteria: Inclusion Criteria - Affiliated to Health Insurance regimen (sécurité sociale) - Patient of 18 years or more - written informed consent - Glioma grade II or III histologically proven - Frozen samples available - Known status IDH1/IDH2 - Presence of a measurable residual tumor (> 2 cm in diameter FLAIR) - Karnofsky Performance Status (KPS)> 60 Exclusion Criteria: - Contraindication to MRI * - The rare patients with IDH2 mutation or with non Arg132His IDH1 mutation will be excluded - Inability to provide informed consent - Patient under guardianship or deprived of liberty by court Inclusion Criteria: Inclusion Criteria - Affiliated to Health Insurance regimen (sécurité sociale) - Patient of 18 years or more - written informed consent - Glioma grade II or III histologically proven - Frozen samples available - Known status IDH1/IDH2 - Presence of a measurable residual tumor (> 2 cm in diameter FLAIR) - Karnofsky Performance Status (KPS)> 60 Exclusion Criteria: - Contraindication to MRI * - The rare patients with IDH2 mutation or with non Arg132His IDH1 mutation will be excluded - Inability to provide informed consent - Patient under guardianship or deprived of liberty by court Non Invasive Diagnosis of Glioma Glioma Our preliminary results indicate an extremely high amount of D-2HG in gliomas and CSF of the patients, and therefore the possibility to detect its presence by spectro-MRI, and to establish a non-invasive diagnosis of glioma with IDH1 mutation. --- Arg132His --- --- Arg132His ---



HPO Nodes


HPO:
Glioma
Genes 50
TSC2 GLI3 BRCA2 TSC1 LRP5 MLH1 PMS2 APC IDH1 MSH6 POT1 TSC2 CDKN2A NF2 MSH3 MSH6 APC NF1 EPCAM TSC1 TGFBR2 SEMA4A IDH1 IDH2 FAN1 APC MSH3 BMPR1A KRAS MLH1 MSH2 C11ORF95 PMS2 MLH3 PIK3CA NBN RELA SETBP1 IFNG RPS20 NF1 PMS1 CHEK2 APC TP53 MSH2 NBN ERBB2 APC NF2