ADIENNE’s R&D team focus on rare disease with a main purpose to understand and dissect pathogenetic mechanisms of specific medical conditions. The ultimate aim is to identify effective treatments for underserved diseases in order to improve and cure patients affected by severe debilitating conditions. Currently, ADIENNE is focusing on the following areas:
Autoimmune diseases involve aberrant immune system reactions such that immune responses are developed against its own organs and tissues (self) causing a functional and anatomic alteration of the affected tissues.
Autoimmune attack can be limited against single cells, tissues, organs, or may have directly or indirectly the whole body.
To date, over 80 different types of autoimmune disorders have been identified. Examples of autoimmune diseases include type-1 diabetes, rheumatoid arthritis, lupus erythematosus, multiple sclerosis, etc.
GRAFT VERSUS HOST DISEASE (GvHD)
Graft versus host disease (GvHD) is a serious medical condition occurring after hematopoietic stem/progenitor cells transplantation. In particular, donor’s immune cells attack recipient tissues and recognize them as a non-self-matter with development of an aberrant immune response. The disease is particularly severe when evolves in the steroid resistant variant.
The term acute GvHD traditionally described a distinctive syndrome of cutaneous, hepatic and gastrointestinal inflammation developing within 100 days of allogeneic hematopoietic cell transplantation. However, it is now recognized that acute GvHD can occur after day 100, and chronic GvHD may occur before then, and the syndromes are currently defined by their clinical features, rather than their timing in relation to transplantation (Filipovich AH et al. National Institutes of Health consensus development project on criteria for clinical trials in chronic Graft-versus-host Disease: I. Diagnosis and Staging Working group report. Biol Blood Marrow Transplant 2005; 11: 945- 956).
The symptoms include rash, diarrhea, nausea, cholestasis with or without jaundice, abdominal pain.
STEM CELL TRANSPLANTATION
Hematopoietic Stem Cell Transplantation (HSCT) has become a standard treatment for patients suffering from hematopoietic system disorders – congenital or acquired – like leukemia, lymphoma, multiple myeloma, and beta-thalassemia major. HSCT includes all the procedures through which hematopoietic stem cells – regardless of the donor’s features – are implanted into a recipient in order to repopulate and regenerate body hematopoietic system. Stem cells can be obtained from bone marrow, blood, or umbilical cord. Stem cells transplantation can be classified in three categories: autologous, allogeneic, or syngeneic.
- Autologous transplantation is a procedure in which stem cells are collected from the patient and re-infused as rescue therapy following myeloablative treatment. This type of procedure represents the standard treatment for lymphoma and multiple myeloma.
- Allogeneic transplantation is a procedure in which patients receive stem cells from a donor. The donor can be an HLA identical sibling, a matched unrelated donor (MUD), a haploidentical family donor. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is widely used to treat patients with malignant and non-malignant haematological disorders.
- Syngeneic transplantation is a procedure in which a patient receive stem cells from an identical twin.
Conditioning plays a central role in HSCT and it consists of a combination of chemotherapeutic drug with or without radiotherapy. Conditioning is given with three main objectives: “creation of space”, immunosuppression and disease eradication. The key goal of the conditioning regimen is long-term disease control (EBMT-ESH Handbook on Haematopoietic Stem Cell Transplantation. 2012).
HEMOLYTIC-UREMIC SYNDROME (HUS)
Hemolytic-Uremic Syndrome (HUS) is a pathological condition affecting both blood and renal tissues. Clinical consequences of HUS include hemolytic anemia, thrombocytopenia and acute renal failure. HUS can be classified in two forms named typical and atypical HUS.
Typical HUS is caused by infectious agents such as enterohemorrhagic strain of Escherichia coli (O157: H7), and in the majority of the cases preceded by episodes of diarrhea.
The atypical or non-enteropathic hemolytic-uremic syndrome (aHUS) is associated with genetic defects of specific components of the complements and therefore can affect members of the same family.
Atypical HUS is also associated with a less favorable prognosis compared to the typical form.