- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03722212
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
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.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
The Glut1 Deficiency Syndrome (Glut1DS) is a debilitating, proteiform neurometabolic disorder caused by an impairment in the glucose transporter Glut1 at the cell surface. Patients suffer from seizures, movement disorders and intellectual disabilities. A timely diagnosis is of prime importance as this haploinsufficiency can be improved by the so-called ketogenic diet.
By diagnosing Glut1DS early, based on symptoms associated with Glut1DS, healthcare providers can prescribe the Keto diet therapy early in the disease progression, which could prevent impairment of central nervous system function caused by the disease. Therefore, an early diagnosis of Glut1DS for its treatment is crucial.
Currently, the disease is very difficult to diagnose correctly and in a timely manner. The current diagnosis practice requires a lumbar puncture in order to determine if hypoglycorrhachia occurs. The diagnosis result is then supported by the detection of a heterozygous pathogenic variant in slc2a1 gene. This diagnosis procedure is time consuming, expensive, and requires a geneticist's data interpretation. Currently, ketogenic diet therapy is the most efficient therapy for Glut1DS.
METAglut1 is a first-in-kind IVD device used to aid in the diagnosis of the Glut1 Deficiency Syndrome (Glut1DS) by quantifying the cell surface expression level of the glucose transporter 1 (Glut1) on circulating human red blood cells. The METAglut1 IVD is primarily intended for use in pediatric patients older than 3 months, of both sexes, of any ethnic origin. The METAglut1 IVD may also be used to aid in the diagnosis of Glut1DS in adults with late onset symptoms.
The METAglut1 IVD is authorized for marketing in the European Union pursuant to the CE mark and is currently being distributed in France.
The study aims to validate the diagnostic performances of METAglut1. It will last for 2 years, more than 40 centers will participate in the study across France. Up to 3,000 patients with symptoms compatible with Glut1DS will be included prospectively; each of them will be tested for METAglut1, in parallel and blindly of the reference strategy. The METAglut1 test is performed by Laboratoire CERBA (Saint-Ouen l'Aumône, France). A retrospective cohort of already diagnosed patients will also be analyzed to add more data. Concordance analysis with the glycorrhachia, the first biochemical dosage involved in the reference strategy, will be performed, and overall diagnostic performances of METAglut1 calculated.
Before to start analysis, a thorough data management plan was implemented with on-site monitoring, automated controls of eCRF and recoding after queries and data reviewing.
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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Angers, France, 49933
- Hôpital Larrey- CHU Angers
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Bayonne, France, 64109
- Hôpital Saint Léon
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Bondy, France, 93140
- Hôpital Jean Verdier- APHP
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Bordeaux, France, 33076
- Centre hospitalier Pellegrin_ CHU Bordeaux
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Bron, France, 69677
- Hôpital Femme Mere enfant- CHU de Lyon
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Bron, France
- Hospices Civils de Lyon_CHU Lyon
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Clermont-Ferrand, France, 63003
- Hôpital d'Estaing- CHU Clermont-Ferrand
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Dijon, France, 21079
- CHU dijon Bourgogne
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Garches, France
- Hôpital Raymond Poincaré- APHP
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La Tronche, France, 38700
- Hôpital Nord_CHU Grenoble
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Lille, France
- Hôpital Jeanne de Flandre _CHRU Lille
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Limoges, France, 87042
- Hôpital de la mère et de l'enfant- CHU Limoges
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Marseille, France, 13385
- Hôpital La Timone Enfant- APHM
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Metz, France, 57085
- CHR Metz-Thionville
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Montpellier, France, 34295
- Hôpital Gui de Chauliac- CHU Montpellier
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Nantes, France
- Hôpital Mère-Enfant_ CHU de Nantes
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Paris, France, 75013
- Hôpital la Pitié-Salpêtrière-APHP
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Paris, France, 75015
- Hôpital Necker- APHP
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Paris, France, 75019
- Hôpital Robert Debré- APHP
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Paris, France, 75571
- Hopital trousseau- APHP
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Paris, France
- Hôpital Bicêtre- APHP
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Rennes, France, 35203
- Hôpital Sud de Rennes- CHU Rennes
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Saint-Nazaire, France, 44606
- Hôpital de Saint-Nazaire
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Saint-Priest-en-Jarez, France, 42270
- Hôpital Nord, CHU Saint-Etienne
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Strasbourg, France
- Hôpital de Hautepierre- CHU Strasbourg
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Tarbes, France, 65013
- Hôpital de Tarbes - CH Bigorre
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Toulouse, France, 31059
- Hôpital des Enfants- CHU Toulouse
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Tours, France, 37000
- Hôpital de Clocheville_ CHU Tours
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: Prospective patients
The 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.
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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.
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Other: Retrospective patients
Patients with confirmed Glut1DS diagnosis Already diagnosed patients are included retrospectively as well as patients with pending diagnosis at inclusion (inconsistent biological or genetic data).
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Concordance analysis between METAglut1 and glycorrhachia
Time Frame: Up to 6 months
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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:
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Up to 6 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Sensitivity, specificity, positive and negative predictive values of METAglut1
Time Frame: Up to 6 months
|
These analysis will be performed on patients with a diagnosis of certainty in the prospective cohort. For this analysis two subgroups are distinguished:.
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Up to 6 months
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Sensitivity, specificity of METAglut1
Time Frame: Up to 6 moths
|
These analysis will be performed on patients with a diagnosis of certainty in the retrospective cohort and cumulated cohort (prospective and retrospective). For this analysis two subgroups are distinguished:.
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Up to 6 moths
|
Concordance analysis between METAglut1 and glycorrhachia
Time Frame: Up to 6 months
|
This analysis will be performed on patients with at least lumbar puncture and METAglut1 testing and with a diagnosis of certainty, either positive or negative, in the cumulative cohort (prospective and retrospective).
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Up to 6 months
|
Sensitivity analysis with optimized threshold of positivity of the METAglut1™ assay
Time Frame: Up to 6 months
|
In a sensitivity analysis, the threshold of positivity of the METAglut1™ assay will vary between 75% and 80% and performances calculations will be reported for this variation.
|
Up to 6 months
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Time to diagnosis
Time Frame: Up to 6 months
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The time between clinical suspicion of Glut1DS and diagnosis will be calculated and compared between different diagnostic strategies
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Up to 6 months
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Health technology assessment
Time Frame: Up to 2 years
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Health technology assessment will be performed on patients included in the study
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Up to 2 years
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Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Fanny Mochel, MD, PhD, Assistance Publique - Hôpitaux de Paris
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Mental Disorders
- Pathologic Processes
- Metabolic Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Disease
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Neurodevelopmental Disorders
- Syndrome
- Seizures
- Movement Disorders
- Intellectual Disability
- Carbohydrate Metabolism, Inborn Errors
Other Study ID Numbers
- 2017-A01473-50
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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