Descrizione del progetto
Test diagnostico per l’insufficienza midollare
Per sindrome da insufficienza midollare (BMFS, Bone Marrow Failure Syndrome) si intende un gruppo eterogeneo di malattie rare caratterizzate dalla perdita di globuli rossi e bianchi a causa del malfunzionamento delle cellule staminali del sangue. Il progetto STRATIFY, finanziato dall’UE, mira a sviluppare un test BMFS utilizzando un kit di reagenti economico e macchine sierologiche standard per lo screening degli autoanticorpi. I ricercatori del progetto avevano precedentemente identificato un autoanticorpo che definiva un gruppo distinto di pazienti con BMFS con background genetici simili, suggerendo una patogenesi comune. L’analisi degli autoanticorpi è stata in grado di rivelare casi di anemia aplastica e definire un sottogruppo di pazienti con BMFS con una patologia di base simile che manca ancora di diagnosi. Gli obiettivi attuali sono la realizzazione di prove di concetto tecnologiche e la valutazione delle opzioni di commercializzazione.
Obiettivo
Bone marrow failure syndromes (BMFS) such as aplastic anaemia (AA) are a heterogenous group of rare diseases that manifest as loss of red and white blood cells. In these potentially life-threatening diseases, blood producing stem cells may be inherently defective or become destroyed due to acquired cause. Diagnostic difficulties of BMFS constitute a significant clinical problem as the diagnosis takes long, and misdiagnosis may lead to inappropriate management with serious side effects.
In our ERC-CoG project we made an exciting discovery and identified a novel autoantibody in AA patients’ blood samples. Autoantibody positivity defined a distinct group of patients with similar genetic background suggesting common pathogenesis. Our preliminary results show that the autoantibody analysis has great potential to reveal cases of AA and define a subset of other BMFS patients with similar underlying pathology that currently lack proper diagnosis. Furthermore, vast commercialisation potential lies in introducing it as an exclusion laboratory test in patients with unexplained anaemia or leukopenia (common problems in elderly).
The improved diagnostic accuracy and the targeted personalised therapy that follows has the potential to impact the lives of hundreds of thousands of patients over time and bring simultaneous healthcare savings. Further, understanding of the role of target protein of the autoantibody in bone marrow failure may lead to targeted therapies in the future.
We believe that the test can be developed as an inexpensive reagent kit to be used in serology machines for autoantibody screening. In order to improve the commercialisation potential, we will carry out 1) Technology PoC for confirming the approach validity, and 2) Pre-commercialisation actions for evaluating the best commercialisation options for bringing the innovation to clinicians managing haematological patients and for pharma companies as companion diagnostic tests together with their therapies.
Campo scientifico
Programma(i)
Argomento(i)
Meccanismo di finanziamento
ERC-POC-LS - ERC Proof of Concept Lump Sum PilotIstituzione ospitante
00014 Helsingin Yliopisto
Finlandia