Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
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Mochel, Fanny | Gras, Domitille | Luton, Marie-Pierre | Nizou, Manon | Giovannini, Donatella | Delattre, Caroline | Aubart, Mélodie | Barth, Magalie | de Saint-Martin, Anne | Doummar, Diane | Essid, Nouha | Garros, Alexa | Le Camus, Caroline Hachon | Hoebeke, Celia | The Tich, Sylvie Nguyen | Perivier, Maximilien | Rivera, Serge | Rolland, Anne | Roubertie, Agathe | Sarret, Catherine | Sevin, Caroline | Ville, Dorothée | Sitbon, Marc | Costa, Jean-Marc | Pons, Roser | Garcia-Cazorla, Angels | Vuillaumier, Sandrine | Petit, Vincent | Boespflug-Tanguy, Odile | de Vivo, Darryl, C | An, Isabelle | Bailly, Laurent | Bendetowicz, David | Charles, Perrine | Delorme, Cécile | Demeret, Sophie | Giron, Camille | Heide, Solveig | Heinzmann, Anna | Lalaude, Mathilde | Méneret, Aurélie | Mezouar, Nicolas | Monin, Marie-Lorraine | Mouthon, Linda | Roze, Emmanuel | Tarrano, Clément | Villain, Nicolas | Yazbeck, Elise | Auvin, Stéphane | Da Costa, Lydie | Dozières, Blandine | Portes, Vincent Des | Gokce-Samar, Zeynep | Panagiotakaki, Eleni | Souci, Sabrine | Toulouse, Joseph | Bellesme, Céline | Maurey, Hélène | Salah, Lucie | de Villemeur, Thierry Billette | Garzon, Pauline | Héron, Bénédicte | Isapof, Arnaud | Nougues, Marie-Christine | Ravelli, Claudia | Renaldo, Florence | Rodriguez, Diana | Valence, Stéphanie | Dangles, Marie-Thérèse | de Lonlay, Pascale | Desguerre, Isabelle | Durrleman, Chloé | Hully, Marie | Albertini, Francesca | Cano, Aline | Chabrol, Brigitte | Chavany, Julie | Kaphan, Elsa | Lagarde, Stanislas | Villeneuve, Nathalie | Avez-Couturier, Justine | Chaton, Laurence | Cuvellier, Jean-Christophe | Dehak, Rabha | Ballay, Florence Flamein | Floret, Valentine | Remérand, Ganaëlle | Abi Warde, Marie-Thérèse | Anheim, Mathieu | de Feraudy, Yvan | Gebus, Odile | Perriard, Caroline | Spitz, Marie-Aude | Khalil, Mirna | Tosi, Cécilia Marelli | Alvarez, Blanca Mercedes | Meyer, Pierre | Valle, Sarai Urtiaga | Canon, Mathilde | Ioos, Christine | Espil, Caroline | Husson, Marie | Goizet, Cyril | Michaud, Vincent | Pedespan, Jean-Michel | Damaj, Léna | Hadjadj, Sarah | Lavillaureix, Alinoë | Lepage, Jean-Marie | Ugolin, Mélissa | Froget, Rachel | Laroche, Cécile | Cancès, Claude | Salel, Yu Jin | Viguier, Agnès | Mazzola, Laure | Perrin, Laurine | Besson, Gérard | Dubois, Fanny | Lametery, Elodie | Jacquet, Coralie | de Pontual, Loïc | Castelnau, Pierre | Lagrue, Emmanuelle | Gibaud, Marc | Chouchane, Mondher | Darmency, Véronique | Fatus, Clémence Fauconnier | Bilbault, Claire | Cullier, Anne Charlotte | Mekary, Jacinthe | Touhami, Jawida | Baer, Marie-Elodie | Litou, Nadine | Samaan, Simon | Béesau, Christophe | Bitaudeau, Floriane | Cousin, Christelle | Desport, Elodie | Djouadi, Lynda | Hamadi, Yasmine | Lebreton, Emeline | Moriceau, Sandra
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CCSD ; American Academy of Neurology -
International audience.
Background and Objective GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes a wide range of neurologic symptoms in children and adults. However, its diagnosis relies on an invasive test, that is, a lumbar puncture (LP) to measure glycorrhachia, and sometimes complex molecular analyses of the SLC2A1 gene. This procedure limits the number of patients able to receive the standard of care. We wished to validate the diagnostic performance of METAglut1, a simple blood test that quantifies GLUT1 on the erythrocyte surface. Methods We performed a multicenter validation study in France, involving 33 centers. We studied 2 patient cohorts: a prospective cohort consisting of patients with a clinical suspicion of Glut1DS explored through the reference strategy, that is, LP and analyses of the SLC2A1 gene, and a retrospective cohort that included patients previously diagnosed with Glut1DS. All patients were blind-tested with METAglut1. Results We analyzed 428 patients in the prospective cohort, including 15 patients newly diagnosed with Glut1DS, and 67 patients in the retrospective cohort. METAglut1 was 80% sensitive and >99% specific for the diagnosis of Glut1DS. Concordance analyses showed a substantial agreement between METAglut1 and glycorrhachia. In the prospective cohort, the positive predictive value of METAglut1 was slightly higher than that of glycorrhachia. METAglut1 succeeded to identify patients with Glut1DS with SCL2A1 mosaicism and variants of unknown significance.
