The Multiple Osteochondromas Disease Registry - REM

The REM Registry aims to collect data from patients with Multiple Osteochondromas disease. This condition, primarily caused by alterations on the EXT1 and EXT2 genes, is characterised by bony outgrowths (osteochondromas) that arise on long bones. Those osteochondromas, rarely present at birth, grow in size and number during childhood until skeletal maturity, causing malformation, functional limitations and other symptoms. In approximately 5% of patients, an osteochondroma may transform into its malignant counterpart, the Secondary Peripheral Chondrosarcoma. The REM Registry currently contains the largest worldwide dataset of Multiple Osteochondromas patients and is partly supported by the Acar Association.

The Register of imperfect osteogenesis - ROI

The ROI Registry is intended for the study and understanding of the Osteogenesis Imperfecta syndrome. This disease, also known as “brittle bone disease”, has a genetic background leading to abnormalities in the synthesis of type I collagen, due to mutations in the COL1A1 and COL1A2 genes or in other genes such as IFITM5, SERPINF1, CRTAP, etc.

This condition is characterised by frequent fractures and other problems in the skeleton and articular apparatus, also often causing various symptoms of different level of severity affecting heart, eyes, ears, skin, teeth, etc. The most severe forms bring to prenatal or perinatal lethality.

The Fondazione del Monte di Bologna e Ravenna supported the project entitled “Intelligenza artificiale e registri di patologia: un approccio innovativo nella ricerca di biomarcatori diagnostici/prognostici nelle fragilità ossee” based on ROI registry data.

The Registry of Ehlers-Danlos Syndrome - RED

The RED Registry seeks to study the natural history and the causes of Ehlers-Danlos which mainly affects the connective tissue and is primarily caused by changes in the collagen molecules (including COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, etc.). This syndrome is typically characterised by laxity of ligaments and hyperelasticity of the skin, but it is also outlined by additional signs and symptoms, which may vary among different types (vascular, classic, hypermobile, etc.), and also involve other apparatus such as the vascular one and the skin. 

The Registry of Olllier Disease and Maffucci syndrome - ROM

The ROM Registry aims to investigate two very rare diseases characterised by the presence of intraosseous cartilaginous tumours, usually benign, with asymmetrical distribution. In Ollier disease, clinical symptoms usually occur in the first ten years of life, and the cartilage lesions can be very variable ins size and localization. It is therefore very difficult to establish the prognosis.

The Maffucci syndrome begins during the first 5 years of life and is characterised by the presence of enchondromas and soft-tissue hemangiomas.

The diagnosis of these diseases is primarily clinico-radiographic, since the molecular basis and pathogenesis are still unknown: no discriminatory molecular findings are currently available for the confirmation of the diagnosis. Further studies are needed to shed light on the molecular bases of the disease.

The Registry of Li-Fraumeni and Li-Fraumeni like Syndrome (ReLF) 

The Registry ReLF aims to increase knowledge about Li-Fraumeni syndrome and Li-Fraumeni like. This syndrome predisposes to the development of several tumours, which often include osteosarcoma, soft tissue sarcoma, breast cancer, leukaemia, etc. Li-Fraumeni Syndrome is inherited as an autosomal dominant trait.