Thanks to this new and innovative blood test, it will be possible to screen for the disease in any patient showing learning difficulties and/or epilepsy and/or abnormal movements. “METAglut1 offers patients and their families major prospects in the fight against delayed diagnosis, which can mean years before they get to the bottom of their symptoms, despite treatments being available,” explained Magali Sorret, Founder and President of the ASDGLUT1 patient support group. “This rapid and precise blood diagnostic test, readily available to all physicians and, especially, paediatricians and neurologists, is a major milestone for patients with this rare disease, as their diagnosis and treatment will be much faster,” stated Dr Fanny Mochel, Principal Investigator for the study, geneticist and Head of the Reference Centre for Adult Neurometabolic Diseases at AP-HP Pitié-Salpêtrière Hospital.
In particular, the test resulted in almost 100% specificity and its sensitivity was identical to the lumbar puncture at around 80%. The study highlighted similar performance between the diagnostic test and the more invasive standard approach – lumbar puncture – for detecting this metabolic abnormality. The partners announced the key findings of a multicentre validation study at the 3rd European GLUT1D Conference on Friday 11 June 2021. This new blood diagnostic test promises to help quickly (within 48h) and easily identify affected children and adults, compared to the current diagnostic tests which rely on an invasive procedure (lumbar puncture) or complex genetic analysis. Diagnosing the disease as early as possible so that proper treatment can be established is therefore of crucial importance. Molecules designed to bypass the deficiency related to the lack of glucose supplied to the brain are also currently being assessed. However, unlike many genetic diseases, treatment is available for De Vivo disease in the form of a high-fat diet (known as a ketogenic diet), which significantly improves symptoms in patients. The decreased glucose level in the brain causes epileptic seizures, abnormal movements and developmental delay. In GLUT1-deficient patients, the transporter necessary for glucose uptake by brain cells is impaired. It is estimated1 that more than 3,000 people suffer from the De Vivo disease in France, and over 90% of them have currently gone undiagnosed. The De Vivo disease, or GLUT1 deficiency syndrome, is a rare and debilitating neurological disease that is still relatively unknown among the medical community, but it can be treated.
0 kommentar(er)
