Atypical haemolytic uremic syndrome, a new drug approved in Italy
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The treatment of atypical haemolytic uremic syndrome (HUS) is about to enter a new phase: Aifa (Italian drug agency) has approved the reimbursement of a new drug that promises to significantly improve the quality of life of over 600 people in Italy affected by this ultra-rare disease, which causes chronic inflammation and damage to blood vessels with consequences that, if not treated in time, can even be fatal. The new treatment, called ravulizumab, blocks the molecular mechanism of the disease from the first infusion, preventing the need for dialysis, and takes effect for 8 weeks, thus reducing patients’ dependence on hospitals.
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What is atypical haemolytic uremic syndrome
Atypical haemolytic uremic syndrome is a rare disease that affects about 600 patients throughout the peninsula. It is due to chronic and uncontrolled activation of the complement system, a component of the immune system. “This anomaly – he explains Gaetano LaManna, Full Professor of Nephrology at the University of Bologna and Director of the Dialysis and Transplant Nephrology Unit at the Sant’Orsola Hospital in Bologna – leads to a state of chronic inflammation that causes damage to the blood vessel walls. This leads to an accumulation of platelets and leukocytes which greatly increases the risk of thrombus formation”.
The causes of the disease are not entirely clear. In 50-70% of cases the atypical hemolytic-uremic syndrome has a genetic basis (several genes involved are known), but not in all cases it is now possible to trace the specific mutations. “The onset of the disease is sudden and can occur both in childhood and in adulthood – adds La Manna – It is possible to live decades in perfect health, and then, due to a triggering event such as pregnancy, infection or ‘abuse of some drugs, manifest the symptoms of the syndrome”. The first organ to be damaged is usually the kidney but damage can extend to the heart, lungs, brain and gastrointestinal system. About 50% of patients with the syndrome require dialysis, suffer permanent kidney damage, or die within the first year.
From plasma treatments to monoclonal antibodies
In the past, plasma exchange or infusion was used to manage atypical haemolytic uraemic syndrome, but this strategy has never really proved effective. “Today the primary objective of treatment consists in the ‘switching off’ of the complement system and in particular of the C5 protein – adds the expert -. To do this, until now we proceeded to administer eculizumab, a humanized monoclonal antibody inhibitor of complement capable of blocking the C5 protein of complement. Now, thanks to the new ravulizumab, the treatment of the syndrome takes another step forward. The therapy not only radically modifies the natural history of the disease, but significantly improves the quality of life of patients and their families”.
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Tried in two multi-center Phase 3 clinical studies (one in both adult new-onset disease-naïve and treatment-naive pediatric patients), intravenous ravulizumab has been shown to inhibit C5 in patients early, completely and for a long time (8 weeks against 2 of the predecessor eculizumab). “In adults treated with ravulizumab, 53% had a complete response to thrombotic microangiopathy (the most evident clinical manifestation of the disease, ed.) in the initial evaluation period, equal to 26 weeks, and 61% in the first twelve months – explains Joseph Castellano, Director of Complex Structure Associate Professor of Nephrology at the University of Milan -. Ravulizumab in the pediatric population achieved 94.4% complete response rate and 100% discontinued dialysis.”
Innovation that improves the quality of life
The atypical haemolytic uremic syndrome, often presenting itself acutely and affecting both adults and children, significantly compromises the quality of life. Suddenly passing from a condition of well-being to one of illness there can be important psychological repercussions. Furthermore, the management of the disease affects the daily life of people and their families: visits to hospital are very frequent, forcing patients and families to travel (sometimes long and expensive) and to be absent from school or the workplace. “With ravulizumab, the benefits of lengthening the time between infusions are important,” he says. Paul Chiandotto, President of the Alice Project Patients’ Association Association for the fight against HUS -. It means going to the hospital fewer times, therefore losing fewer hours of work for adult patients and for the parents of young patients, and losing fewer school days for children. Overall, these advantages translate into greater general well-being as one feels less ‘connected’ to the hospital”. Another aspect not to be overlooked is that fewer administrations mean lower costs for travel to and from the treatment center, costs entirely borne by the affected person.
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“It is important that therapeutic innovation also goes in this direction, allowing the person’s needs to enter organically into the management of the disease, and it is equally important that the sustainability of the treatment path, especially in chronic diseases, is a common goal for all the interlocutors of the Health System”. “Since our birth – he concludes Anne Clare Rossi, VP & General Manager Italy at Alexion, AstraZeneca Rare Disease – our research objective is to develop innovative therapies capable of significantly improving the quality of life of people with rare diseases and their families. All this has been possible thanks to the collaboration and continuous exchange of experiences with patients and clinicians. Being able to create an antibody capable of further improving both treatment and people’s daily lives is a source of great pride for us”.
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