Trial Information

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)

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. Our goal is to identify and
quantify by high-field MRI spectroscopy the presence of D-2HG to identify gliomas with IDH1
mutation. In parallel, we developed a technique for selective amplification of the mutated
form of IDH1 (COLD PCR): by combining this technique with digital PCR, we already are able
to detect IDH1 mutation from free plasma DNA with a sensitivity of 58% and a specificity of
100%. At the same time we have shown that D-2HG levels in urine of patients correlate with
the status of the tumor IDH1.

The main objective is to identify using this triple approach (detection of the mutation on
plasma DNA detection, detection of urinary D-2HG, detection of tumor D-2HG by spectro-MRI)
patients with IDH1arg132His mutation, the secondary objective is to evaluate the value of
these markers for patients follow-up and for differentiating recurrence from treatment
induced damage. 40 patients with grade II and grade III gliomas (20 mutated, 20 non mutated)
will be included and followed up for one year (five measurements are planned).

The first interest is diagnostic: the presence of the IDH1Arg132His mutation allows the
diagnosis of glioma. This information is particularly valuable in patients not amenable to
biopsy, because of the location of the tumor considered at risk, the general condition of
the patient or the co-morbidities and medications. We hope also with these parameters to
better monitor patient's follow-up, and to have a new method to differentiate tumor
recurrence and radionecrosis or post-radiation leukoencephalopathy.