Austrian National Node

BBMRI-ERIC, with its headquarter in Austria is involved in the ID-EPTRI Project as leader of the Thematic Research Platform “Paediatric Biomarkers and Biosamples” together with its Italian third party University of Milano Bicocca.

Austrian respondents of the EPTRI WP3 surveys described expertise in “Paediatric Medicines Discovery” (50%) in endocrinology, gynaecology, haematology, infectious diseases and oncology; in “Paediatric Biomarkers and Biosamples” (25%) in haematology and oncology, and in “Paediatric Medical Devices” (25%) in immunology and musculoskeletal diseases.

Furthermore, the OKIDS Organisation, St. Anna Children’s Cancer Research Institute, Medical University of Graz and University of Vienna signed the Memorandum of Understanding to develop the EPTRI Research Infrastructure and organise the research institutes into a National Node (the Austrian Hub).

The Austrian Hub (EPTRI-AT) will be constituted by the following Institutes:

• OKIDS Organisation Kinderarzneiforschung – Medicines for Children Research in Austria: OKIDS was developed jointly by the Austrian Paediatric Medical Society for Children and Adolescents, the Federal Ministry of Health, and Pharmig (an association which represents the Austrian pharmaceutical industry). It is a network of experienced paediatric hospitals and universities with the aim of performing clinical trials in all areas of paediatrics which comply with national and international standards and guidelines on medicines for children guaranteeing high quality research, good recruitment and improved health outcomes for children. OKIDS also acts in close co-operations with all stakeholders to facilitate information and training in the field of human development and basic paediatric research; early translational research and paediatric drug development; paediatric biomarkers and biomaterials; paediatric pharmacology; and appropriate formulations for paediatric medicinal products all within the scope of a clinical research environment with a strong focus on paediatric clinical trials. On the 6^th of March 2020, OKIDS signed the official letter of support to EPTRI.
• St. Anna Children’s Cancer Research Institute: It has several departments and research lines in oncology (e.g. solid tumours), molecular microbiology, haematology, immunology, integrative analysis and infectious diseases. Researchers study paediatric development mechanisms in oncology (e.g. leukaemia, neuroblastoma, glioblastoma, Ewing sarcoma) using a new combined method based on proteomics and miRNomics to identify novel drug targets on paediatric populations, and perform experimental validation of a various chemotherapy and immunotherapy drugs. They develop new model platforms using zebrafish model and use genetically engineered zebrafish cancer models to perform xenotransplantation of human cancer cells into zebrafish to study and to identify new therapeutic strategies. Moreover, they study induced pluripotent stem cells and perform hematopoietic stem cell transplantation. Furthermore, they are ahead in imaging and in genetics and study the combination of medical imaging, artificial intelligence and cancer treatment in children to improve machine-learning that can be used for future treatments. The researchers also use biomarkers as diagnostic, prognostic e predictive tools in identification, characterisation and validation of biomarkers with FISH, arrays and NGS approaches, especially for neuroblastoma.
• Medical University of Graz: This centre has a broad range of expertise and research, which extends from basic and applied research to patient-centred clinical research. At the Paediatric Department, the researchers have expertise in nephrology, urology, haematology, genetics, neurology, oncology, immunology and musculoskeletal diseases and study autoimmune diseases, tumor and neurological diseases. They perform in vitro studies to investigate the blood-brain barrier, its protective effects and modulate functions. They study the recombinant factor VIIa with different platelet counts, the effects of recombination factor under conditions of thrombocytopenia and the potentially differing dose response of recombinant factor in cord blood. They also study the spinal muscular atrophy disease and the right treatments in patients with different types of symptoms. In the field of immunology, they study the response effects after hematopoietic stem cells transplantation in patients with primary immune regulatory disorders. They also use haploidentical stem cell transplantation and subsequent immunotherapy with anti-GD2 antibody for patients with relapsed metastatic neuroblastoma. In genetics, they discovered a novel fusion gene in a child with juvenile myelomonocytic leukaemia. At the Orthopedic Department, they perform research on biodegradable implants. In the field of biodegradable implants, they perform research projects on the development and application of biodegradable implants for bones of any localization based on naturally dissolving materials, which are excreted by the body as soon as the bone is fully functional again. The Medical University has established small and large animals’ SOP for the growing bone besides an organi-typical culture model of bone. Furthermore, cells of juvenile human patients are used to transfer knowledge of conventional buyable adult cells to adapt the results. Cytotoxicity any cell and animal tests are available according to the ISO Standards.

• University of Vienna: It is subdivided into 15 faculties and five centers. At the Department of Paediatric and Adolescent Medicine, the researchers have expertise in infectious diseases, pulmonary and respiratory diseases, nutrition, psychology, psychiatry, endocrinology, neurology, and rare diseases. The researchers study the chylothorax and chylous-like diseases, which is a rare condition difficult to treat that may represent potentially life-threatening disorder. They investigate on infantile and late onset Pompe disease, an inherited disorder caused by the build-up of glycogen in the body’s cells. They also study Cystic Fibrosis (CF) on the arterial partial pressure of oxygen and P240, possible biomarkers that can used as diagnosis and predictive tools for lung disease and chronic airway infection in CF patients. The researchers perform in vivo studies used to investigate on diabetes mellitus and immunoglobin G modifications, and genetic study of gene mutations that can cause early onset multisystem mitochondrial diseases. They also study paediatric development mechanism relevant in hormonal research (infancy growth) and develop 3D organoid cell cultures from paediatric samples.