The JoinMI project has been launched
Artificial intelligence for the early detection of joint bleeding in hemophilia patients, with the aim of improving the diagnosis and management of joint bleeding through the integration of ultrasound imaging and artificial intelligence.
The project aims to make assessment earlier, more accurate, and accessible even remotely, overcoming the limitations of current systems based on subjective evaluations.
Activities have focused on the development of two main tools: GAJA, dedicated to the autonomous acquisition of ultrasound images by patients at home, and CADET, a diagnostic support system based on artificial intelligence algorithms.
During the first year, significant results were achieved in the standardization of ultrasound images, the development of the self-acquisition application, and the creation of automated analysis models.
Preliminary data confirmed the feasibility of the approach, while also highlighting the need for further optimizations to improve accuracy.
The project will continue with optimization and clinical validation phases, with the goal of reducing complications, improving patients’ quality of life, and optimizing healthcare costs.
Usefulness of platelet aggregation testing for the diagnosis of platelet disorders
This study is aimed at validating new automated but not yet standardized methods for the analysis of platelet aggregation. The study is based on comparison with gold standard methods in order to evaluate diagnostic capability in patients with platelet disorders. In addition, drug response will also be evaluated in patients undergoing antiplatelet therapy. The study is carried out in collaboration with Sysmex.
Development of methods for the detection of anti-emicizumab antibodies
A new product for the treatment of patients with severe hemophilia A, with and without inhibitors, has recently been introduced on the market; it is a bispecific monoclonal antibody (emicizumab) that mimics the function of FVIII by positioning itself spatially between FIXa and FX, promoting their activation. As with other biological drugs, an immune reaction from the host may be expected and, although only a few cases of anti-drug antibody development have been described so far, the limited available data suggest monitoring treated patients. For this reason, our center is developing several assay methods to identify the presence of anti-emicizumab antibodies and study their characteristics in patients treated with this new product. The project is carried out in collaboration with the Mario Negri Institute in Milan and with Sysmex.
Zoom walking
Hemophilia patients frequently suffer from multiple arthropathies of varying degrees of severity due to repeated hemarthroses beginning in childhood. The A. Bianchi Bonomi Hemophilia and Thrombosis Center offers hemophilia patients a physiotherapy and osteopathy service two days a week during annual check-up visits, in collaboration with all the professionals of the Center. The state of emergency resulting from the spread of the SARS-CoV-2 virus imposed, starting from March 2020, a temporary suspension of all activities, except for the management of urgent or priority services. On this occasion, it became necessary to find an alternative solution to maintain an adequate state of health and ensure continuity of care for patients: transferring the service online made it possible to stay in contact with patients. In order to maintain this approach even after the emergency conditions have ended, the project was created with the aim of preserving residual abilities and improving developable skills, understood as education and maintenance of motor function through streaming video lessons. In addition, therapeutic rehabilitation exercise sessions will be alternated with remote sessions of adapted physical activity based on Nordic Walking. The project is carried out with the support of Pfizer.
3 WINTERS-IPS
Type 3 Von Willebrand INTErnational RegistrieS Inhibitor Prospective Study.
The 3 WINTERS – IPS study aims, through the involvement of an international network of experimental centers specialized in the disease, to create a shared database of patients with a confirmed diagnosis of Type 3 Von Willebrand Disease, in order to investigate its characteristics in relation to the response to treatments currently used in clinical practice.
To evaluate the effect of replacement therapy with plasma-derived or recombinant VWF concentrates in 120 patients with Type 3 Von Willebrand Disease, the prospective observational study was extended for an additional three years (3Winters-Ips-Extended) and will conclude by December 2022.
3 SIPPET PROJECT
Survey of Inhibitors in Plasma-Product Exposed Toddlers
It is the first randomized and controlled study on hemophilia and inhibitors. The objective of the study is to evaluate the immunogenicity of plasma-derived and recombinant FVIII concentrates by determining the frequency of inhibitor development during the first 50 days of exposure to therapy or within the three years following enrollment, depending on which of these two conditions occurs first.
SYSMEX
In vitro evaluation of diagnostic kits for bleeding disorders
The study aims to validate new methods, not yet standardized and reported in the international literature, for measuring von Willebrand factor, factor VIII, and factor FIX in plasma. The development of these new methods has become necessary due to the introduction of new treatment products whose monitoring is no longer possible with currently used methods. Therefore, improving laboratory performance in measuring these coagulation factors in plasma could provide useful information for new therapeutic approaches. The study is carried out in collaboration with Hyphen BioMed (HBM) and SYSMEX.