CompletedNot Applicable

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

France636 participantsStarted 2018-09-24

Plain-language summary

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.

Who can participate

Age range3 Months

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Prospective patients - Inclusion Criteria: * Clinical suspicion of the GLUT1 Deficiency Syndrome Retrospective patients - Inclusion Criteria: * Patients with confirmed Glut1DS diagnosis * Patients with pending diagnosis at inclusion (inconsistent biological or genetic data) Exclusion Criteria (for both cohorts): * Patients under 3 months of age * Sickle cell disease S/S * Abnormal imaging

What they're measuring

Concordance analysis between METAglut1 and glycorrhachia

Timeframe: Up to 6 months

Trial details

NCT IDNCT03722212

SponsorMETAFORA biosystems

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2021-03-31

View on ClinicalTrials.gov More Glut1 Deficiency Syndrome trials