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Thanks to the collaboration between the AP-HP teams, the MedTech METAFORA biosystems, the Institute of Molecular Genetics of Montpellier, Cerba Healthcare and more than 30 research centers coordinated by Professor Fanny Mochel of the Paris Brain Institute, a reliable blood test and rapid now enables early diagnosis of Glut1 deficiency syndrome, or De Vivo disease, a rare but treatable neurometabolic condition.
A multi-center clinical study has validated its performance, the results of which have been published in Neurology. Given the expected benefits for patients, the French National Health Authority is now recommending reimbursement by health insurance companies.
Glut1 deficiency syndrome is a rare and disabling neurological disease still relatively unknown to the medical community. A mutation in the SLC2A1 gene in affected patients causes the glucose transporter GLUT1 to malfunction. Because this transporter is responsible for glucose entering glial cells, the brain is deprived of some of the sugar it needs to function properly, leading to seizures, abnormal movements and developmental delays.
These symptoms can be improved by managing the metabolic disorder causing the disease through a high-fat diet, known as a ketogenic diet. In addition, promising new therapeutic molecules designed to compensate for poor glucose supply to brain cells are currently being evaluated. ‘Patients who go undiagnosed suffer a regrettable lost of opportunity. They could be cured,’ says Professor Fanny Mochel, principal investigator on the study. “There is an urgent need to better identify them as many have disappeared or been diagnosed too late.”
The incidence of Glut1 deficiency syndrome is estimated to be one in 24,000 in the general population. This data is probably underestimated, as it only considers epileptic patients and not those with isolated and non-specific symptoms such as learning difficulties or abnormal movements. Diagnosis is even more difficult to make because it previously relied on a lumbar puncture supplemented by genetic testing. “This invasive, often time-consuming and expensive procedure significantly limits access to treatment, adds the researcher. Hence the interest in the search for a blood biomarker to allow rapid diagnosis of Glut1 deficiency syndrome.”
Red blood cells full of clues
Indeed, the GLUT1 transporter is not only abundant in the endothelial and glial cells of the brain: it also binds to the surface of erythrocytes, the red blood cells. The diagnostic test designed by the medtech METAFORA biosystems of Paris makes it possible to quantify GLUT1 on their surface by flow cytometry, a technique usually used in analysis laboratories. A simple blood draw is required to perform the test without the need to draw a fasting patient. The result is available in 48-72 hours.
To validate the new METAglut1 test, AP-HP and 33 French clinical research centres, under the direction of Professor Fanny Mochel, recruited 549 patients in a prospective cohort, i.e. suspected disease and 87 patients from a prospective cohort. retrospective, already diagnosed. The target? To compare the efficacy and accuracy of METAGlut1 with the reference diagnostic test requiring CSF sampling and genetic analysis.
The researchers’ results indicate that METAGlut1 has a sensitivity of approximately 80%, a specificity greater than 99%, and a high predictive value, a performance comparable to the reference test. “These data allow us to formally validate the benefits of the test,” says Professor Fanny Mochel. “It will make it possible to look for Glut1 deficiency syndrome in many patients quickly and easily. If the result is positive, treatment can be started immediately, greatly improving the prognosis, especially for children in full brain development.”
Therefore, the study authors recommend testing all children from three months of age and adults with intellectual disability, neurodevelopmental disorders, abnormal movements, or epilepsy, especially if drug resistant and if a ketogenic diet relieves seizures. Indeed, when used in an early symptomatic phase, METAGlut1 can immediately identify 80% of patients with Glut1 deficiency syndrome. For this reason, the French National Health Authority recommends its reimbursement, which paves the way for its adoption in Europe and the United States.
Fanny Mochel et al, Prospective multicenter validation of a simple blood test for the diagnosis of Glut1 deficiency syndrome, Neurology (2023). DOI: 10.1212/WNL.0000000000207296. n.neurology.org/content/early/ … WNL.0000000000207296
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