PARIS, May 3rd, 2023. (BUSINESS WIRE) – METAFORA biosystems, today announces that the Haute Autorité de Santé (HAS), the French Health Technology Agency, has issued a recommendation for insurance coverage of METAglut1^TM, a test for the early diagnosis of De Vivo disease (or GLUT1 deficiency syndrome), a rare neurometabolic disorder.

The HAS conducted a thorough evaluation of METAglut1^TM, which included an assessment of its clinical performance and clinical utility. The evaluation concluded that METAglut1 is a valuable addition to the diagnostic arsenal for Glut1 DS, and was ascribed a high clinical added value.

Vincent Petit, CEO of Metafora, said, “We are extremely proud to obtain HAS approval for METAglut1, a true milestone for the company and our partners, and not least for GLUT1 deficient patients. This rare neurometabolic disease is highly underdiagnosed, and we expect that METAglut1’s availability will increase awareness and help physicians to diagnose the disease earlier. We are grateful for the Forfait Innovation of the French Ministry of Health, which has allowed us to bring a multi-year prospective study to its successful conclusion. We look forward to making METAglut1 available to patients and clinicians in France and other large European countries, while we are actively exploring ways to launch the test in the U.S. as well.”

Principal Investigator Prof. Fanny Mochel, Head of the Reference Centre for Adult Neurometabolic Diseases at AP-HP Pitié-Salpêtrière Hospital said, “METAglut1 quickly and accurately diagnoses GLUT1 deficiency syndrome. Its reimbursement will be of major benefit to physicians, pediatricians and neurologists, but especially to patients with this rare disease, as its early diagnosis is essential for targeted therapeutic management that can significantly improve the symptoms and daily lives of patients and their families.”

About De Vivo disease & METAglut1^TM – diagnose to cure

De Vivo disease, or GLUT1 deficiency syndrome, is a rare and debilitating neurological disease. An estimated 30,000 people suffer from the GLUT1 deficiency syndrome in Europe and the USA, of which less than 2,000 are currently diagnosed. GLUT1-deficient patients suffer from an impaired glucose uptake by brain cells, leading to epileptic seizures, ataxia and often developmental delay. Uniquely, unlike for many genetic diseases, treatment is relatively straightforward, requiring a high-fat diet (known as a ketogenic diet), which significantly improves symptoms in patients. Early diagnosis is therefore of the essence.

A multicenter validation study supported by the French Society of Neuropediatrics (SFNP) and the French Society for the Study of Innate Metabolic Diseases (SFEIM), was presented at the 3rd European GLUT1D Conference in 2021 and is accepted for a forthcoming publication in a leading scientific journal. It demonstrated that METAglut1 resulted in almost 100% specificity and a sensitivity of approximately 80%.

METAglut1 identifies affected children and adults within 48 hours, unlike current diagnostic tests which rely on a lumbar puncture, an invasive procedure, and complex genetic analysis. METAglut1 is the result of a collaboration between METAFORA biosystems, the teams at Greater Paris University Hospitals (AP-HP), over 30 clinical trial sites, Cerba HealthCare, a clinical testing laboratory responsible for supporting the rollout of METAglut1 in France, and CNRS.

METAglut1 is the first product to receive a recommendation through the Forfait Innovation program supported by the French Ministry of Solidarity and Health. The Forfait Innovation was critical in supporting a 30-month study in over 60 pediatric and adult neurology centers in France to demonstrate the efficacy of METAglut1 for the early detection of the GLUT1 deficiency syndrome.