The study showing that PNH patients treated with eculizumb have the same rates of survival than the general population.

the study showing that PNH patients treated with eculizumb have same survival than the population rates general.

the journal of Hematology Blood published.

– the paroxysmal nocturnal hemoglobinuria (PNH) becomes, in this way, one of the few rare diseases with a treatment to reduce fatal risks that can suffer patients.

-the Department of Hematology of the Hospital Universitario St James ’ s of Leeds (England), with Professor Richard j. Kelly at the head, carried out the study over eight years and with the participation of 79 patients PNH.

Barcelona, July of 2011- the prestigious journal of Hematology Blood (by a factor of impact 10.55) has published its last issue (Blood June 23, 2011 Vol 117 No. 25 6786-6792) study showing that patients with paroxysmal nocturnal hemoglobinuria (PNH) treated with Eculizumab have the same rates of survival than the general population. This study has been done by the Department of Hematology of the Hospital Universitario St James ’ s of Leeds (England), with Professor Peter Hillmen head,

the study had a duration of eight years (2002-2010) with the participation of 79 patients with this disease.

the study, who collected the Blood publication in its online edition the past month of April, shows that the drug is able to significantly reduce the risk of thrombosis, the cause of most common death among patients with PNH. In fact, 34 thrombotic episodes had occurred in 21 of the 79 patients (27%) before being treated with eculizumab. However, the patients treated with eculizumab only occurred in 2 cases of thrombosis.

also treatment with eculizumab drastically reduced the need for blood transfusions that these patients require because of anemia. The study also shows clinical benefit at the level of efficacy and safety in the long term (eight years), concluding that it is a well tolerated drug. The authors also collected in the study, eculizumab changes dramatically the natural course of the disease.

in the view of the DRA. Ana Villegas, the San Carlos Hospital in Madrid, the study of demonstrates the effectiveness of the drug in his performance on the hemolysis. As a consequence slows down almost all complications of the disease. ” the most dangerous complication was that 50% of patients were suffering from thrombosis and almost half of them dying for their cause. So the demonstration of the effectiveness of the treatment is very important to clinical ”, explains the DRA. Villegas.

in addition, DRA. Villegas also qualifies that prior to this study said that the patient should receive four blood transfusions in the past year ” before treatment with eculizumab. But it has been shown that there are problems of thrombosis or kidney failure patients that do not require a prior transfusion ”.

paroxysmal nocturnal hemoglobinuria.

the paroxysmal nocturnal hemoglobinuria (PNH) is a ultra-rara disease that affects about 250 patients in Spain. It is a genetic disorder in which certain proteins do not adhere properly to the red blood cells and therefore these remain unprotected against the immune system and are destroyed prematurely and continuously. It is a very rare condition deteriorating form continuous and progressive patients and constitutes a real threat vital.

first described in 1882, took this name because it was observed that hemolysis (destruction of red blood cells) occurred in situations of crisis and in the evening, during sleep, and after situations of stress, infections, physical effortvaccinations or ingestion of aspirin.

PNH often occurs without warning and affects both sexes, usually between 30 and 40 years, and the delay in diagnosis may reach up to 10 years. The median survival of patients with PNH ranges between 10 and 15 years from the time of diagnosis. It is estimated that it affects between 8,000 and 10,000 people in Europe and North America.

to the authorization of eculizumab, there was no specific therapy for the treatment of PNH. The treatment of this disease was limited to the management of the symptoms through blood transfusions, therapy immunosuppressive non-specific and, in some cases, bone marrow transplant, a procedure that entails a considerable risk of morbidity and mortality.

rare diseases (EERR).

rare or low prevalence diseases grouped a wide and heterogeneous set of potentially life-threatening or debilitating diseases in chronically affecting less than 5 people for every 10,000, according to the classification established by the (European Medicines Agency) EMA in the European Union. This means that the maximum number of patients from a pathology can be considered rare would be 227.000 in the European Union and approximately 22,000 in Spain.

some of the features of rare diseases are as follows:

– in 50% of cases are diagnosed an EERR vital prognosis is at risk. Credited for 35% of deaths in children under one year, 10% of the deaths between 1 and 5 years and 12% in children aged 5 to 15 years.

-65 percent of low-prevalence diseases are serious, chronic and highly disabling. Are characterized by an early start in life (2 of every 3 diseases appear before age two), they lead to chronic pain (in 1 of every 5 patients) and involve a motor, sensory or intellectual deficit in half the cases, and can cause disability in the autonomy.

– the main problems of those affected by an EERR are lack of access to early and correct diagnosis, the lack of information and specialized professionals, the lack of scientific knowledge and the lack of specific treatments authorized, among other factors.

– of 6% to 8% of the population is affected by these diseases, or more than 3 million Spaniards. Fifty diseases affect some thousands of people in Spain and some thousands of rare diseases only tens of people

– in all Spain, there are some 500,000 children affected some EERR.

– it is estimated that 12% of hospital discharges recorded some EERR diagnosis, which means 445,000 patients each year in Spain.