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Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test (METAglut1)

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ClinicalTrials.gov Identifier: NCT03722212
Recruitment Status : Recruiting
First Posted : October 26, 2018
Last Update Posted : October 26, 2018
Sponsor:
Collaborators:
European Commission
Assistance Publique - Hôpitaux de Paris
Cemka-Eval
Ministry for Health and Solidarity, France
French National Authority for Health
Information provided by (Responsible Party):
METAFORA biosystems

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.


Condition or disease Intervention/treatment Phase
Glut1 Deficiency Syndrome De Vivo Disease Seizures Movement Disorders Intellectual Disability Ataxia Diagnostic Test: METAglut1 Not Applicable

Detailed Description:

The GLUT1 Deficiency Syndrome (GLUT1-DS) 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 GLUT1-DS early, based on symptoms associated with GLUT1-DS, 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 GLUT1-DS 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 GLUT1-DS.

METAglut1 is a first-in-kind IVD device used to aid in the diagnosis of the GLUT1 Deficiency Syndrome (GLUT1-DS) 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 GLUT1-DS 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 GLUT1-DS 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.


Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 3000 participants
Intervention Model: Single Group Assignment
Intervention Model Description: The METAglut1 test is performed on each patient, in parallel and blindly of the reference diagnostic strategy which is performed through the current practice.
Masking: None (Open Label)
Masking Description: 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.
Primary Purpose: Diagnostic
Official Title: Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome
Actual Study Start Date : September 24, 2018
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : December 31, 2020


Arm Intervention/treatment
Patients for METAglut1

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.

Already diagnosed patients are included retrospectively.

Diagnostic Test: METAglut1
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.




Primary Outcome Measures :
  1. Concordance analysis of METAglut1 and glycorrhachia [ Time Frame: Up to 6 months ]
    This analysis will be performed on patients with a diagnosis of certainty, either positive or negative, in the prospective cohort.


Secondary Outcome Measures :
  1. 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.


Other Outcome Measures:
  1. 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.

  2. Time to diagnosis [ Time Frame: Up to 6 months ]
    The time between clinical suspicion of GLUT1-DS and diagnosis will be calculated and compared between different diagnostic strategies

  3. Health technology assessment [ Time Frame: Up to 2 years ]
    Health technology assessment will be performed on patients included in the study



Information from the National Library of Medicine

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Ages Eligible for Study:   3 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Clinical suspicion of the GLUT1 Deficiency Syndrome

Exclusion Criteria:

  • Sickle cell disease S/S
  • Abnormal imaging

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03722212


Contacts
Contact: Vincent Petit, DVM, PhD +33961626517 vincent.petit@metafora-biosystems.com
Contact: Manon Nizou, Engineer +33961636517 manon.nizou@metafora-biosystems.com

Locations
France
Hôpital Larrey Recruiting
Angers, France, 49933
Principal Investigator: Christophe VERNY, MD-PhD         
Hôpital Jean Verdier Recruiting
Bondy, France, 93140
Principal Investigator: Loïc DE PONTUAL, MD-PhD         
Hôpital Raymond Poincaré Recruiting
Garche, France, 92380
Principal Investigator: Nouha ESSID, MD-PhD         
Hôpital Bicêtre Recruiting
Le Kremlin-Bicêtre, France, 94270
Principal Investigator: Caroline SEVIN, MD-PhD         
Hôpital Gui de Chauliac Recruiting
Montpellier, France, 34295
Principal Investigator: Agathe ROUBERTIE, MD-PhD         
Principal Investigator: Cécilia MARELLI-TOSI, MD-PhD         
Hôpital la Pitié-Salpêtrière Recruiting
Paris, France, 75013
Principal Investigator: Fanny Mochel, MD, PhD         
Hôpital Robert Debré Recruiting
Paris, France, 75019
Principal Investigator: Odile BOESPFLUG-TANGUY, MD-PhD         
Hôpital Trousseau Recruiting
Paris, France, 75571
Principal Investigator: Diane DOUMMAR, MD-PhD         
Hôpital de Tarbes - CH Bigorre Recruiting
Tarbes, France, 65013
Principal Investigator: Coralie JACQUET, MD-PhD         
Sponsors and Collaborators
METAFORA biosystems
European Commission
Assistance Publique - Hôpitaux de Paris
Cemka-Eval
Ministry for Health and Solidarity, France
French National Authority for Health
Investigators
Principal Investigator: Fanny Mochel, MD, PhD Assistance Publique - Hôpitaux de Paris

Additional Information:
Publications:
Responsible Party: METAFORA biosystems
ClinicalTrials.gov Identifier: NCT03722212     History of Changes
Other Study ID Numbers: 2017-A01473-50
First Posted: October 26, 2018    Key Record Dates
Last Update Posted: October 26, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Syndrome
Seizures
Movement Disorders
Intellectual Disability
Carbohydrate Metabolism, Inborn Errors
Disease
Pathologic Processes
Epilepsy
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Neurobehavioral Manifestations
Neurodevelopmental Disorders
Mental Disorders
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases