A blood test developed to detect a rare neurological disease

AP-HP teams in collaboration with researchers from the ICM (Inserm / CNRS / UPMC), and the start-up Metafora Biosystems, from the CNRS, have just developed a blood diagnostic test for a neurological disease rare but treatable, De Vivo’s disease.
It has been tested on 30 patients with this disease that induces neurological deficits such as epilepsy or walking disorders for example.
The new test will enable children and affected adults to be identified quickly (within 48 hours) and easily compared to current diagnostic tests that rely on invasive gestures, Lumbar puncture or complex DNA analysis.
De Vivo’s disease or syndrome of cerebral glucose transporter 1 (GLUT-1) deficiency is most often characterized by developmental delay, epilepsy and / or motor disorders in children. Frustrated forms have been described in children (access to abnormal movements) but also adults. Based on an estimated prevalence of 1/83 000 in the Danish population, the number of patients in France is estimated to be 800 , of which slightly more than 100 would be diagnosed. As soon as they are diagnosed, patients can benefit from metabolic treatments that decrease the symptoms.
In this study, blood samples from 30 patients with the disease with different profiles, according to age and symptoms, were analysed. Compared with 346 samples of control individuals, the results showed that the test was significantly conclusive with 78% of the diagnosis, including patients for whom the genetic analyses had not been able to establish the diagnosis.
Based on these results, researchers recommend the use of this test in clinical routine in all neurology and neurology departments. They suggest that the simplicity of this new test should increase the number of patients identified in France.
Thanks to this innovative new blood test, the disease can be sought in any patient with intellectual disability and / or epilepsy and / or a walking disorder. The treatments that can be implemented considerably improve the symptoms, such as the disappearance of epileptic seizures, and are all the more effective since they are started early, hence the importance of an early diagnosis .

The Bichat – Claude – Bernard Hospital
www.aphp.fr/contenu/un-test-sanguin-developpe-pour-detecter-une-maladie-rare-neurologique