The ultimate goal of our project is to accelerate the market uptake of METAdiag, the first-of-its-kind diagnostic platform able to assess and monitor the metabolic status of our cells.
METAdiag platform can detect, quantify, analyse and display results of the abnormalities of cell metabolism and diagnose a number of rare diseases, chronic metabolic and inflammatory diseases as well as forms of cancer.
Our first developed METAdiag test, METAglut1, allows neuro-paediatricians to easily diagnose Glut1 Deficiency Syndrome (GLUT1DS) in children. This debilitating disease is associated to epileptic seizures, movement disorders, learning disabilities and even behavioural difficulties. The neurological damage of GLUT1DS can be irreversible if the disease has not been diagnosed and treated timely. However, early diagnosis and treatment with a ketogenic diet allows affected children to lead a healthy life. Unfortunately, currently 90% of GLUT1DS cases are misdiagnosed due to the heterogeneous and atypical symptoms of the disease and to the lack of a non-invasive, not painful and easy to perform diagnosis test for GLUT1DS.
The functional exploration of the syndrome is complex and requires a hospitalization to perform a lumbar puncture and to test glucose in the cerebrospinal. The procedure is highly invasive and painful (subjects being children), and requires highly skilled health professionals, therefore increasing diagnostic costs. Additionally, the full diagnosis of the syndrome involves the analysis of the SLC2A1 gene (encoding gene for Glut1 transporter), which is lengthy, expensive and often not available in hospitals.
On the contrary, our METAglut1 test is:
* Non-invasive and painless, performed using a blood sample,
* Simple, fast and automated, providing both doctor and patient with a result in 24 hours, very quickly after symptoms onset and a clinical suspicion is raised,
* 100% specific, as it directly quantifies Glut1 transporter expression level.
Moreover, our METAdiag platform can be adapted to test a whole variety of diseases such as cancer and metabolic diseases, in which abnormalities in cell energetics is key. We chose GLUT1DS as the first target for our diagnostic platform due to the high incidence of refractory epilepsies in Europe and the USA (30% resistant to available treatments), over 30 millions of patients with intellectual disabilities and 25% due to genetic disorders, all showing compatible symptoms for misdiagnosed cases of GLUT1DS.
It is estimated that approximately 50 million people worldwide suffer from epilepsy. This syndrome is the 4th most common neurological problem, after migraine, stroke and Alzheimer’s disease. The average incidence in developed countries is estimated at around 50 per 100,000 people per year. It is very important to stress, that approximately 70% of people with epilepsy respond to treatment, leaving out 30% who are treated for epilepsy and may actually suffer from other disorders, including GLUT1DS. In particular, it is possible that up to 2% of all idiopathic generalized epilepsy and 10% of early onset absence epilepsy may be undiagnosed GLUT1 deficiency syndrome.
Our technology is packaged into a unique and reliable proprietary in vitro diagnostics (IVD) platform. METAglut1 is our first quick win test addressing an empty market niche that will be ready for worldwide deployment in 2020. METAglut1 test is meant to save years of diagnostic tests and medical wandering for patients, and thousand euros of costs in these tests, hospitalizations and inappropriate treatments.
The monitoring of normal and altered metabolic functions will provide new knowledge on numerous pathologies, including rare diseases, obesity, diabetes and forms of cancer. It will also enable new tests to be developed to improve the prevention of certain diseases and the maintenance of health through this biological measure. Our collaboration with CERBA HealthCare, a leading European medical testing lab, will contribute to the development of diagnostics solutions in the field of metabolism.
