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De Vivo Disease clinical trials

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NCT ID: NCT03722212 Completed - Seizures Clinical Trials

Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test

METAglut1
Start date: September 24, 2018
Phase: N/A
Study type: Interventional

The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease). The blood test will be carried out prospectively on patients presenting with a clinical suspicion of Glut1DS, blindly from the reference strategy, which consists in a lumbar puncture for glycorrhachia measurement, completed by a molecular analysis. The study will be conducted in more than 40 centers in France on up to 3,000 patients for 2 years.