Laboratoire Cerba, Paris, will perform the MetaGlut1 diagnostics test developed by Metafora Biosystems, Evry, France, for the early noninvasive diagnosis of a debilitating neurological disease, the GLUT1 deficiency syndrome, also named De Vivo disease.
The MetaGlut1 test was developed to illustrate a dysfunction in cells’ nutrition. The test received the CE mark at the end of January.
Affecting mostly children, the disease arises from a lack of expression of GLUT1, the major glucose transporter. The metabolic disorder induces a chronic glucose deficiency in the brain, and provokes epileptic seizures, movement disorders, learning disabilities, and behavioral difficulties in affected children.
The syndrome belongs to a rare disease group, and is thought to be underdiagnosed due to the heterogeneous presentation of symptoms that can be quite atypical. It is estimated that in Europe the disease affects some thousands of patients, 90% of whom are not diagnosed to date and are therefore enduring a traumatic diagnostic odyssey.
“Clinical variability of the disease and low awareness induce an important lag in diagnostics,” says Vincent Petit, cofounder and CEO of Metafora Biosystems. “The mean diagnostic age is around 8 years of age, although the first clinical signs appear during the first year of life. Patients’ quality of life is significantly improved by an adapted diet. Being able to come up with an early diagnosis is therefore crucial for improving clinical practice in this disease.”
Today, functional exploration of the syndrome is complex and often requires hospitalization to perform a lumbar puncture and test for glucose in the cerebrospinal fluid.
“The test is noninvasive, and is performed using a classic blood sample,” says Jérôme Salette, chief innovation and development officer at Cerba Healthcare. “It is simple, fast, and automated, and we shall be able to provide both doctor and patient with a result in 24 hours, very quickly after the first symptoms and a clinical suspicion. This test is meant to save years of diagnosis for patients.”
“We are proud to collaborate with Cerba Healthcare so that our test will be promptly and widely available to the medical community thanks to their large network of laboratories in France but also overseas,” adds Petit.
For more information, visit Laboratoire Cerba or Metafora.