IVD Blood Test for Glut1DS Diagnosis

METAglut1™ is the solution to a major unmet need to aid diagnose children & adults

thanks to a non invasive, fast and affordable test for a

damaging disease that can be treatable.

The Glut1 Deficiency Syndrome

Glut1DS, or De Vivo disease,

is a rare neurometabolic syndrome caused by 

a defect in the glucose transporter type 1 (Glut1),

resulting in a cerebral energy deficit.

The disease is linked to mutations in the SLC2A1
gene coding for the GLUT1 protein,  mostly
heterozygous dominant and de novo.

MEDICAL WANDERING

> 95 %

of patients are currently

NOT diagnosed

Mean age at diagnosis

is 8 years old

Puzzeled by
neurological symptoms?

  • Neurodevelopmental disorders
    (intellectual disability or specific mixed neurodevelopmental disorder)
  • Epilepsy
    (childhood onset, drug resistance, seizures associated with fasting…)
  • Movement disorders
    (paroxysmal or permanent)
  • Abnormal eye movements
  • DEE
    (developmental and epileptic encephalopathy)

Think

Glut1DS…

Glut1DS is characterized by a

wide phenotypic spectrum

with a combination and severity of symptoms that greatly vary from one patient to another.

Early Detection is Key

Picture23-qn9l30n46ihe6frvcxl5cnuans8wkw8st1i30uhhc0

Treatable with a ketogenic diet (KD)

Late diagnosis leads to
irreversible brain damage


It is essential to diagnose as early as possible to allow prompt compensation,

through the Ketogenic Diet, for the brain’s lack of fuel…”

“Early identification of children with the disease is important in order to avoid submitting them to possibly ineffective or potentially detrimental treatments with anticonvulsants”

 

De Giorgis, P. Veggiotti / Seizure 22 (2013) 803–811

 

– GLUT1 deficiency syndrome 2013: Current state of the art.

METAglut1™ is
A direct quantification of GLUT1 on erythrocytes

  • On a simple blood draw
  • No need for fasting
  • Outpatient or inpatient settings
  • Quick turnaround time (24-72h)
  • Great performance*

Equivalent to glycorrhachia

Sensitivity »80%

Specificity >99%
PPV =90%
NPV =97%

*Results published in

Mochel F. et al. Prospective Multicenter Validation of
a Simple Blood Test for the Diagnosis of Glut1
Deficiency Syndrome. Neurology. 2023 Jun
6;100(23):e2360-e2373

METAglut1™ used as a first line simple test to search for Glut1DS patients**

** Strategy published in the journal Neurology* and recommended by the HAS: Avis n°2023.0011/AC/SEAP du 30 mars 2023 du collège de la Haute Autorité de santé relatif à l’inscription sur la liste des actes et prestations mentionnée à l’article L. 162-1-7 du code de la sécurité sociale du test METAglut1™

Specialist Prescribes METAglut1™

1: METAglut1™ is prescribed by neuropediatricians, neurologists or geneticists.

Patient Proceeds with a Blood Draw

2: Blood draw is performed at the hospital, clinic or diagnostic laboratory, in common EDTA vacutainer tubes. No need for fasting. Samples are stored at 4°C and stored for up to 7 days.

Diagnostic Testing Lab Performs the test & Analysis

3: The hospital, clinic or diagnostic laboratory performs the protocol from the METAglut1™ kit. Samples are processed through flow cytometry.

A report is automatically generated with error detection and/or warnings.

A copy of the results is provided to the prescriber.

Results
(24-72 hrs)

April 2023
Green light and approval from HAS to facilitate reimbursement of METAglut1™ test in France

“METAglut1™ is a valuable addition to the diagnostic arsenal for Glut1DS, and is ascribed a high clinical added value” (ASA 2)

METAglut1™ is on the market in France, Belgium, and Luxembourg thanks to our partnership with a leading European Testing Lab, CERBA Laboratoire

First In Vitro diagnostic test developed from our METAdiag platform
using proprietary biomarkers

In Vitro Diagnostic Medical Device to aid the early diagnosis of the Glut1 Deficiency Syndrome (Glut1DS) a rare neuropediatric disease

CE marked

The test has received funding from the European Union’s Horizon 2020 research and innovation program
(No 806038)

Our Partners

We collaborate with many Patient associations worldwide because they understand the benefit of our work:

We also collaborate with many leading research hospitals worldwide

Send us an email

    METAglut1™
    This website uses cookies to improve your experience. By using this website you agree to our Data Protection Policy.
    Read more