Metafora Biosystems, Paris, a company developing diagnostic tests to detect abnormalities in cellular energetics, has been granted ‘Forfait Innovation’ funding for Metaglut1, its test for the early diagnosis of De Vivo disease (Glut1 deficiency syndrome). The company’s product is the first diagnostic to secure funding through the Forfait Innovation program, which is administered by the French National Authority for Health.

The Forfait Innovation program 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 Forfait Innovation funding, Metafora will be able to conduct a 30-month study in more than 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 the De Vivo metabolic dysfunction in comparison to the more-invasive conventional diagnostic approach involving lumbar puncture. Results of the study are expected to 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,” says Fanny Mochel, MD, 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. “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.”

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, permitting the condition to be managed appropriately and reducing debilitating symptoms.

Petit

Vincent Petit, Metafora Biosystems.

According to recent estimates, there are approximately 12,000 cases of De Vivo disease in the European Union and the United States, 80% of which remain undiagnosed.1 Unlike many other rare diseases, however, De Vivo disease is treatable. Once correctly diagnosed, patients can follow a ketogenic diet that significantly improves 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,” says 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.”

The Metafora technology uses receptor binding domains—patented reagents that quantify cell nutrient transporters—coupled with powerful algorithms, to detect abnormal nutrient consumption that may be the cause of illnesses such as neurometabolic diseases, cancer, or inflammatory disorders.

Metaglut1 is the first diagnostic test that Metafora has developed using its proprietary technology. The company published initial results and obtained CE marking for the test in 2017.2 Metafora and Laboratoire Cerba signed a partnership last year and announced a successful technology transfer.

References

  1. Genetics Home Reference: Glut1 Deficiency Syndrome [online]. Bethesda, Md: National Library of Medicine, 2018. Available at: https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome#statistics. Accessed May 28, 2108.
  1. Gras D, Cousin C, Kappeler C, et al. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol. 2017;82(1):133–138; doi: 10.1002/ana.24970.