METAglut1 Test
We were happy to welcome Vincent Petit and Luc d’Auriol to our conference in Nashville. We appreciate the opportunity to share more information about this exciting new test through a Question and Answer session.
How did you get interested in GLUT1DS?
Our company METAFORA studies nutrient transporters which are pores in the cell membranes that allow the entry of essential nutrients such as phosphate, glutamine, glucose, certain vitamins etc. We have developed tools that allow us to measure how many of these transporters are present at the cell surface. Our CEO was giving a talk on the general approach that we offer and a doctor from Robert Debré hospital in Paris, who is a hematologist, told him she was seeing a patient that had GLUTDS and “it would be interesting to see what your tools allow to detect on this patient”. We found that this patient had a 50% reduction of GLUT1 expression on his red blood cells. After presenting this first result to neurologists, namely Pr. Odile Boespflug-Tanguy and Dr. Fanny Mochel from Paris Hospitals, they clearly expressed a great interest, and turned their demand as follows: a simple, non-invasive blood test to easily screen for GLUT1DS. And that was the start of the adventure.
How does your METAglut1 test work? What are you measuring?
We measure the expression level of GLUT1 on red blood cells, as these cells express a large amount of GLUT1 at their surface. To achieve this, we have developed a unique probe which recognizes specifically GLUT1; it is fluorescent, and after being mixed with patient’s red cells, a flow cytometer records how many probes are bound to the red blood cells. Most GLUT1DS patients have a lower expression of GLUT1 on their cells, that’s the reason why we can detect the disease through this simple test.
We need a very small amount of blood to perform the test and we don’t need the patient to be fasting; result is available quickly, in 1 to 3 days maximum, just time for the tube to be sent to a testing lab. Altogether METAglut1 is very easy to prescribe, is non-invasive and provides a quick result.
What is the development stage of the test?
It took us two years to develop the method. We have recently demonstrated the relevance of the test through a retrospective study which has been performed on patients from France and Hong Kong. Results obtained in this first cohort have been published in Annals of Neurology in June 2017. The test is CE marked (a European equivalent of the FDA approval in the USA), which makes the test ready for commercialization in Europe. We are preparing a large prospective validation study in France to demonstrate the promise of the test once used as a screening test in the daily life, ie. to help physicians fight GLUT1DS misdiagnosis and medical wandering. The final goal for us is to obtain a reimbursement of the test from French health authorities.
Is the test already available to neurologists?
The test is available in France through a major French testing lab, CERBA Healthcare, that covers also Belgium, North Africa and parts of the Middle East, but it is not reimbursed yet, patient or hospitals have to pay for it.
When will the test be available throughout Europe, in the USA and other countries?
We hope to make the test available as soon as possible in all countries. For this we need to recapitulate what we have done in France, especially:
What are your contacts with patient associations?
Early on, we got in touch with Professor De Vivo who recognized that our test could be a “game changer” for the management of the disease and initiate the ketogenic diet as soon as possible. Prof. De Vivo accepted to join our scientific advisory board and gave us the opportunity to talk directly to prominent scientists from Europe and the USA working on GLUT1DS and patient associations.
We attended the first European meeting on GLUT1DS that was organized by the Italian association and Massimiliano Barone in Milano in October 2016. This was a very large meeting with more than 250 attendees from many different nationalities. We are working closely with the French association founded by Magali Sorret, that was started this spring, to promote GLUT1DS awareness in France.
We were offered to make on oral presentation for the test during the GLUT1 Deficiency Foundation meeting in Nashville, and this has been a key moment for us.
On top of all the good science we were very touched and impressed by all the children and the parents that were attending these meetings as this was the first time we had seen a meeting that mixed together scientists and patients which changes the way we do science.
More and more neurologists and GLUT1DS stakeholders are aware of METAglut1 development, and are willing to use it and help us promote it. These contacts are critical if we want to push the test into the current clinical practice and significantly improve the way GLUT1DS is diagnosed, especially for patients to benefit earlier from the right diet!
Our company METAFORA studies nutrient transporters which are pores in the cell membranes that allow the entry of essential nutrients such as phosphate, glutamine, glucose, certain vitamins etc. We have developed tools that allow us to measure how many of these transporters are present at the cell surface. Our CEO was giving a talk on the general approach that we offer and a doctor from Robert Debré hospital in Paris, who is a hematologist, told him she was seeing a patient that had GLUTDS and “it would be interesting to see what your tools allow to detect on this patient”. We found that this patient had a 50% reduction of GLUT1 expression on his red blood cells. After presenting this first result to neurologists, namely Pr. Odile Boespflug-Tanguy and Dr. Fanny Mochel from Paris Hospitals, they clearly expressed a great interest, and turned their demand as follows: a simple, non-invasive blood test to easily screen for GLUT1DS. And that was the start of the adventure.
How does your METAglut1 test work? What are you measuring?
We measure the expression level of GLUT1 on red blood cells, as these cells express a large amount of GLUT1 at their surface. To achieve this, we have developed a unique probe which recognizes specifically GLUT1; it is fluorescent, and after being mixed with patient’s red cells, a flow cytometer records how many probes are bound to the red blood cells. Most GLUT1DS patients have a lower expression of GLUT1 on their cells, that’s the reason why we can detect the disease through this simple test.
We need a very small amount of blood to perform the test and we don’t need the patient to be fasting; result is available quickly, in 1 to 3 days maximum, just time for the tube to be sent to a testing lab. Altogether METAglut1 is very easy to prescribe, is non-invasive and provides a quick result.
What is the development stage of the test?
It took us two years to develop the method. We have recently demonstrated the relevance of the test through a retrospective study which has been performed on patients from France and Hong Kong. Results obtained in this first cohort have been published in Annals of Neurology in June 2017. The test is CE marked (a European equivalent of the FDA approval in the USA), which makes the test ready for commercialization in Europe. We are preparing a large prospective validation study in France to demonstrate the promise of the test once used as a screening test in the daily life, ie. to help physicians fight GLUT1DS misdiagnosis and medical wandering. The final goal for us is to obtain a reimbursement of the test from French health authorities.
Is the test already available to neurologists?
The test is available in France through a major French testing lab, CERBA Healthcare, that covers also Belgium, North Africa and parts of the Middle East, but it is not reimbursed yet, patient or hospitals have to pay for it.
When will the test be available throughout Europe, in the USA and other countries?
We hope to make the test available as soon as possible in all countries. For this we need to recapitulate what we have done in France, especially:
- to find partner testing laboratories in each country
- to obtain authorizations for selling the test in each country
- to convince health authorities to accept reimbursement of the test
- to develop neurologists awareness around the test and its advantages for detecting patients earlier
What are your contacts with patient associations?
Early on, we got in touch with Professor De Vivo who recognized that our test could be a “game changer” for the management of the disease and initiate the ketogenic diet as soon as possible. Prof. De Vivo accepted to join our scientific advisory board and gave us the opportunity to talk directly to prominent scientists from Europe and the USA working on GLUT1DS and patient associations.
We attended the first European meeting on GLUT1DS that was organized by the Italian association and Massimiliano Barone in Milano in October 2016. This was a very large meeting with more than 250 attendees from many different nationalities. We are working closely with the French association founded by Magali Sorret, that was started this spring, to promote GLUT1DS awareness in France.
We were offered to make on oral presentation for the test during the GLUT1 Deficiency Foundation meeting in Nashville, and this has been a key moment for us.
On top of all the good science we were very touched and impressed by all the children and the parents that were attending these meetings as this was the first time we had seen a meeting that mixed together scientists and patients which changes the way we do science.
More and more neurologists and GLUT1DS stakeholders are aware of METAglut1 development, and are willing to use it and help us promote it. These contacts are critical if we want to push the test into the current clinical practice and significantly improve the way GLUT1DS is diagnosed, especially for patients to benefit earlier from the right diet!
