Novel Blood Test for Early Detection of De Vivo Disease

Metafora Biosystems, a company developing diagnostic tests to detect abnormalities in cellular energetics, has announced that it has been granted ‘Forfait Innovation’ funding for METAglut1, its test for the early diagnosis of De Vivo disease (GLUT1 deficiency syndrome). This is the first diagnostic test to secure funding through the Forfait Innovation program supported by the French Ministry of Solidarity and Health.

Forfait Innovation provides special temporary funding for medical technologies, in vitro diagnostic devices or innovative procedures that are in the early diffusion stage. The funding is dependent on the completion of a study prospectively demonstrating the technology's potential.

With the Forfait Innovation funding, Metafora will be able to conduct a 30-month study on 3,000 patients in over 60 pediatric and adult neurology centers in mainland France and its overseas territories. The study aims to demonstrate the efficacy of the Metafora test for the detection of this metabolic dysfunction as compared to the more invasive conventional approach involving lumbar puncture. The results of this study should be published in 2021.

"This quick and accurate blood test is a real asset for doctors. They will be able to perform a simple and specific diagnostic. They can then choose from available treatment options, and hopefully in the near future, from other treatments currently under evaluation," said Dr. Fanny Mochel, neurologist and the study's principal investigator, who serves as the head of the reference center for adult neurometabolic diseases at the Hôpital de la Pitié-Salpêtrière, Paris. "It will prove highly beneficial in preventing misdiagnosis of these patients, who usually have to wait several years before the real cause of their symptoms is identified, even though treatments are available."

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De Vivo disease is a rare, debilitating illness, relatively unknown in the medical profession. The protein responsible for transferring glucose from the blood into the brain cells malfunctions and the lack of sugar in the brain results in epileptic seizures, ataxia and developmental delay. Metafora’s blood test can detect the disease early. This allows the condition to be managed appropriately and thus reduces debilitating symptoms in patients.

According to recent estimates, there are approximately 12,000 cases of De Vivo disease in EU and the USA, 80 per cent of which remain undiagnosed. However, unlike many other rare diseases, De Vivo disease is treatable. Once correctly diagnosed, patients can follow a special diet (called the ketogenic diet) significantly improving their quality of life. Studies are also underway with molecules that compensate for the lack of available glucose in the brain cells.

"Metafora is delighted to have been awarded the Forfait Innovation. We would like to thank the Ministry of Solidarity and Health as well as the HAS for the trust they have placed in us," said Vincent Petit, CEO of Metafora. "This first test represents a key milestone for our company and, once it has been validated, we plan to apply our technology to other diseases, particularly in oncology."

METAglut1 is the first diagnostic test that Metafora has developed using its proprietary technology. The company published initial results in the Annals of Neurology, and obtained CE marking for the test in 2017. Metafora and Laboratoire Cerba signed a partnership last year and announced a successful technology transfer.

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