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DISEASES

ChemICare targets a cluster of rare diseases currently without therapy: Tubular Aggregate Myopathy (TAM), characterized by painful contractures and progressive skeletal muscle degeneration, York Platelet Syndrome (YPS), where the main hallmark is the abnormal bleeding, and Stormorken Syndrome (STRMK), a combination of the previous two pathologies. These three diseases are caused by gain-of-function mutations in Orai1 and STIM1, which lead to an abnormal increase in intracellular calcium levels.

Tubular Aggregate Myopathy (TAM) is a rare disease belonging to the class of congenital myopathies, characterized by hypotonia and muscular hypotrophy at birth and severe weakening of muscle tone caused by histopathological alterations of the sarcoplasmic reticulum. From a clinical point of view, TAM causes myalgia, cramps, muscle stiffness, with or without weakness. This is a very particular subclass of muscular dystrophy affecting childhood, which is still incurable and has an incidence still unknown (estimated at about 1 new case every 250,000 births). The children affected have a characteristic elongated face and, often, skeletal dysmorphisms. In case of fatal evolution, there is a serious respiratory musculature impairment.

York Platelet Syndrome (YPS) has been recently described and represents a rare genetic form of thrombocytopenia. The clinical phenotype is characterized by a greater tendency to bleeding, thrombocytopenia, coagulation defects, and muscle weakness with skeletal muscle atrophy. Almost all the patients so far diagnosed with York syndrome suffer from a greater tendency to bleeding with epistaxis, bruising or post-partum haemorrhage. It affects newborns, causing bleeding diathesis, congenital myopathy and muscle dysplasia. The incidence of this disorder is currently unknown.

Stormorken Syndrome (STRMK) is a rare disease discovered in 1985 that affects many districts in the body. The patients affected usually develop thrombocytopenia, resulting in bruising and abnormal bleeding and they also have frequently muscle disorders. Another feature of the Stormorken syndrome is the permanent constriction of the eye pupils (myosis) or even asplenia, ichthyosis (genetic disorder of the skin) and dyslexia associated with migraine. This syndrome is currently incurable and its incidence is unknown.

Recently, ChemICare has also focused its attention on Acute Pancreatitis, another disease caused by a SOCE hyper-activation. In pancreatic acinar cells (PACs), SOCE hyper-activation leads to calcium overload, representing a key trigger for injury and necrosis in Acute Pancreatitis and leading to trypsin activation, inflammation and vacuolization.

Acute pancreatitis (AP) is a systemic immunoinflammatory response to auto-digestion of the pancreas and peri-pancreatic organs. This condition is a life-threatening disease that affects approximately 4.1 in 10,000 people in the European Union, equivalent to a total of around 200,000 people. Gallstones are the most common cause, together with alcohol abuse, hypertriglyceridemia, genetic causes and drug intake. Despite the great advances in critical care medicine over the past 20 years, the mortality rate of AP has remained high, between 1.5% and 4.2%, and deaths are mainly due to failure of multiple organ systems (respiratory, cardiovascular or renal), exacerbation of pre-existing disorders and pancreatic and extra-pancreatic infections. AP is diagnosed by medical history, physical examination, and typically a blood test (amylase or lipase) for digestive enzymes of the pancreas. The diagnosis of pancreatitis is often difficult, and treatments are therefore delayed because the organ is relatively inaccessible. The testing of AP includes techniques such as transabdominal ultrasound, endoscopic ultrasound (EUS), and endoscopic retrograde cholangiopancreatography (ERCP) that can themselves trigger further episodes of pancreatitis.
The main clinical and societal need is that for this disease there is no effective pharmacological treatment. Indeed, the current management of AP is supportive, symptomatic and limited to pain relief, nutritional support and fluid resuscitation. Surgery is useful, but limited to pancreatitis due to gallstones, while antibiotics may help only in those episodes where an infection is documented. Clinical trials are ongoing, but mainly regard old and known drugs that are not disease-modifying agents. Notably, patients undergoing an episode of AP are at high risk for relapse. Indeed, if the underlying cause is not corrected, recurrences of AP or chronic pancreatitis could occur, leading to serious impairment in quality of life. Overall, long hospitalizations, high-quality supportive and intensive care, surgical and diagnostic procedures, complications and relapses lead to disproportionately high healthcare costs, and it is estimated that about 2.5 B€ are spent annually in Europe in taking care of patients with AP.

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