METAglut1, A NEW DIAGNOSTIC TEST FOR THE GLUT1 DEFICIENCY SYNDROME
Laboratoire Cerba and METAFORA biosystems are proud to announce the availability of the innovative test METAglut1 in routine biology to help diagnose the GLUT1 deficiency syndrome (GLUT1-DS)
Laboratoire Cerba will perform the METAglut1 diagnostics test developed by METAFORA for the early non-invasive diagnosis of a debilitating neurological disease, the GLUT1 deficiency syndrome (also named De Vivo disease). This disease which affects mostly children is due to a lack of expression of GLUT1, the major glucose transporter. This metabolic disorder induces a chronic glucose deficiency in the brain and provokes epileptic seizures, movement disorders, learning disabilities and even behavioral difficulties in affected children. The METAglut1 test is a true medical innovation, the first ever diagnostics test to illustrate a dysfunction in cells’ nutrition and was just CE marked at the end of January.
This syndrome belongs to the rare disease group and is thought to be extremely under diagnosed due to the very heterogeneous presentation of symptoms that can even be quite atypical. It is estimated that some thousands of patients are affected by the disease in Europe, of which 90% are not diagnosed to date and therefore endure a dramatic medical wandering.
“Clinical variability of the disease and low awareness induce an important lag in diagnostics. 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” comments Vincent Petit, co-founder and CEO of METAFORA biosystems.
Today no satisfactory biological method exists to guide or confirm the diagnosis of a GLUT1 deficiency. The functional exploration of the syndrome is complex and requires most of the time a hospitalization to perform a lumbar puncture and to test glucose in the cerebrospinal fluid. On the other hand the analysis of the SLC2A1 gene is lengthy and expensive.
“The test is non-invasive, and is performed using a classic blood sample. 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” points out Jérôme Salette, Chief Innovation and Development Officer at Cerba Healthcare.
“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 Vincent Petit.