METAglut1™ - Metafora

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

Puzzled by

neurological symtoms?

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.

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™

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 if any.

A copy of the results is provided to the prescriber.

Results
(24-72 hrs)

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

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