Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test
METAglut1
Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome
1 other identifier
interventional
636
1 country
28
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Sep 2018
Typical duration for not_applicable
28 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 24, 2018
CompletedFirst Submitted
Initial submission to the registry
October 25, 2018
CompletedFirst Posted
Study publicly available on registry
October 26, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 31, 2021
CompletedStudy Completion
Last participant's last visit for all outcomes
July 9, 2021
CompletedDecember 1, 2022
August 1, 2022
2.5 years
October 25, 2018
November 28, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Concordance analysis between METAglut1 and glycorrhachia
This analysis will be performed on patients with a diagnosis of certainty, either positive or negative, in the prospective cohort. For this analysis two subgroups are distinguished: * Patients with lumbar puncture, molecular analysis of the slc2a1 gene and METAglut1 testing. * Patients with at least lumbar puncture and METAglut1 testing.
Up to 6 months
Secondary Outcomes (1)
Sensitivity, specificity, positive and negative predictive values of METAglut1
Up to 6 months
Other Outcomes (5)
Sensitivity, specificity of METAglut1
Up to 6 moths
Concordance analysis between METAglut1 and glycorrhachia
Up to 6 months
Sensitivity analysis with optimized threshold of positivity of the METAglut1™ assay
Up to 6 months
- +2 more other outcomes
Study Arms (2)
Prospective patients
OTHERThe METAglut1 test is performed on all patients included in the study. In parallel, patients included prospectively (based on a clinical suspicion) benefit from the reference diagnostic strategy through the current practice, starting with a lumbar puncture for glycorrhachia dosage.
Retrospective patients
OTHERPatients with confirmed Glut1DS diagnosis Already diagnosed patients are included retrospectively as well as patients with pending diagnosis at inclusion (inconsistent biological or genetic data).
Interventions
A blood draw is performed on each patient for the METAglut1 test, and sent to Laboratoire CERBA, Saint-Ouen l'Aumône, France, for sample analysis.
Eligibility Criteria
You may qualify if:
- Clinical suspicion of the GLUT1 Deficiency Syndrome
- Patients with confirmed Glut1DS diagnosis
You may not qualify if:
- Patients under 3 months of age
- Sickle cell disease S/S
- Abnormal imaging
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- METAFORA biosystemslead
- European Commissioncollaborator
- Assistance Publique - Hôpitaux de Pariscollaborator
- Cemka-Evalcollaborator
- Ministry for Health and Solidarity, Francecollaborator
- French National Authority for Healthcollaborator
Study Sites (28)
Hôpital Larrey- CHU Angers
Angers, 49933, France
Hôpital Saint Léon
Bayonne, 64109, France
Hôpital Jean Verdier- APHP
Bondy, 93140, France
Centre hospitalier Pellegrin_ CHU Bordeaux
Bordeaux, 33076, France
Hôpital Femme Mere enfant- CHU de Lyon
Bron, 69677, France
Hospices Civils de Lyon_CHU Lyon
Bron, France
Hôpital d'Estaing- CHU Clermont-Ferrand
Clermont-Ferrand, 63003, France
CHU Dijon Bourgogne
Dijon, 21079, France
Hôpital Raymond Poincaré- APHP
Garches, France
Hôpital Nord_CHU Grenoble
La Tronche, 38700, France
Hôpital Jeanne de Flandre _CHRU Lille
Lille, France
Hôpital de la mère et de l'enfant- CHU Limoges
Limoges, 87042, France
Hôpital La Timone Enfant- APHM
Marseille, 13385, France
CHR Metz-Thionville
Metz, 57085, France
Hôpital Gui de Chauliac- CHU Montpellier
Montpellier, 34295, France
Hôpital Mère-Enfant_ CHU de Nantes
Nantes, France
Hôpital la Pitié-Salpêtrière-APHP
Paris, 75013, France
Hôpital Necker- APHP
Paris, 75015, France
Hôpital Robert Debré- APHP
Paris, 75019, France
Hôpital Trousseau- APHP
Paris, 75571, France
Hôpital Bicêtre- APHP
Paris, France
Hôpital Sud de Rennes- CHU Rennes
Rennes, 35203, France
Hôpital de Saint-Nazaire
Saint-Nazaire, 44606, France
Hôpital Nord, CHU Saint-Etienne
Saint-Priest-en-Jarez, 42270, France
Hôpital de Hautepierre- CHU Strasbourg
Strasbourg, France
Hôpital de Tarbes - CH Bigorre
Tarbes, 65013, France
Hôpital des Enfants- CHU Toulouse
Toulouse, 31059, France
Hôpital de Clocheville_ CHU Tours
Tours, 37000, France
Related Publications (1)
Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.
PMID: 28556183BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Fanny Mochel, MD, PhD
Assistance Publique - Hôpitaux de Paris
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Masking Details
- The METAglut1 test is performed blindly of the reference strategy. METAglut1's result masking is maintained for the investigator on the one hand, and the glycorrhachia value masking is maintained for the centralized testing laboratory in charge of METAglut1 on the other hand.
- Purpose
- DIAGNOSTIC
- Intervention Model
- PARALLEL
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 25, 2018
First Posted
October 26, 2018
Study Start
September 24, 2018
Primary Completion
March 31, 2021
Study Completion
July 9, 2021
Last Updated
December 1, 2022
Record last verified: 2022-08
Data Sharing
- IPD Sharing
- Will not share
The data that support the findings of this study are available from the corresponding authors on reasonable request. Permissions are required to gain access to the data resources, subject to successful registration and application process.