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
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|
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.|
|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|
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.
- 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.
- 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.
- 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.
- 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
- Health technology assessment [ Time Frame: Up to 2 years ]Health technology assessment will be performed on patients included in the study
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
|Contact: Vincent Petit, DVM, PhDfirstname.lastname@example.org|
|Contact: Manon Nizou, Engineeremail@example.com|
|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|
|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|
|Paris, France, 75571|
|Principal Investigator: Diane DOUMMAR, MD-PhD|
|Hôpital de Tarbes - CH Bigorre||Recruiting|
|Tarbes, France, 65013|
|Principal Investigator: Coralie JACQUET, MD-PhD|
|Principal Investigator:||Fanny Mochel, MD, PhD||Assistance Publique - Hôpitaux de Paris|