Experts in Prague. Czech Republic Hosts the Congress of the European Association for Haemophilia and Allied Disorders (EAHAD)

The press release outlines the topics and developments that experts are discussing at this year's EAHAD Congress.

A true revolution is taking place in the treatment of people with hemophilia -- people with blood clotting disorders. Physicians are preparing new treatments that will mean patients no longer need to regularly inject clotting factor into their veins -- the factor their bodies cannot produce due to a missing gene. Scientists are exploring the possibilities of gene therapy that could practically make people with hemophilia healthy.

Gene therapy has been discussed for a long time, but in recent years, very promising results have been published suggesting it will be possible to maintain factor levels in a person with hemophilia at near-normal values for many years. "I would not dare to estimate exactly when gene therapy will be realistically available, but I think a horizon of ten or more years can be considered," says Jan Blatný, Head of Paediatric Haematology at the University Hospital Brno, who is a member of the EAHAD Executive Board and coordinator of the Czech National Hemophilia Programme. Clinical studies are already underway involving a limited number of patients. "So far these involve adults; the benefits for children are investigated only at the very end, once safety of the procedure has been demonstrated in adults," notes Dr Blatný.

Very simply put, in gene therapy, a functional gene responsible for producing the blood clotting factor is placed into a greatly weakened virus that is not dangerous. It is injected into the vein, and when it reaches the liver cell, that cell begins to produce the needed factor thanks to the gene. "So far it has been demonstrated that the effect lasts on the order of years," emphasises Blatný. "That would be enormous progress, because today people with hemophilia inject a drug into their veins roughly every two to three days."

Hemophilia treatment has made enormous progress over the past 40 years. "In developed countries, they began using clotting factor concentrates in the 1970s; unfortunately in our country, this was possible on a larger scale only about twenty years later, because as 'Western goods' they were not commonly purchased under socialism. Without this treatment, people with hemophilia often ended up in a wheelchair at an early age and sometimes even died from serious bleeding episodes. For illustration: the average age of persons with severe hemophilia in some Indian states is still only fifteen years," says Blatný. Treatment then gradually shifted from addressing the consequences of bleeding to preventing it. Thanks to so-called prophylaxis, the number of joint bleeding episodes per patient decreased from dozens per year to an absolute minimum. "Today, the median in the Czech Republic is two bleeding episodes per year."

In the last two years, drugs with extended effect have appeared, where one or two injections per week are sufficient, and for certain types of hemophilia, even once every two weeks. "This is a great relief for patients," added the doctor. An even greater change is the new treatment options where the body is not directly given the blood clotting factor, but it is replaced by another mechanism. "These drugs can be administered once a week, some even less frequently, and only subcutaneously. Some of these preparations are already registered in the EU, and registration of others is being prepared. This is a fantastic change, comparable to the one that came 40 years ago with the introduction of prophylaxis. You cannot imagine what a relief it is for the patient not to have to regularly inject into a vein. Some manufacturers are therefore trying to develop concentrates of the missing factors that could be administered this way in the future."

The developments in hemophilia treatment are being followed with interest by Minister of Health Adam Vojtěch. "I am pleased to see the results of the work that experts in the care of hemophilia patients are delivering. I believe that the treatment being prepared will represent a revolution that will bring patients unprecedented comfort and in certain cases save their lives," he says, adding that the Ministry of Health is addressing the issue of modern therapeutic approaches including gene therapy. "We are negotiating with pharmaceutical company representatives and health insurance companies and seeking the most suitable solutions for financing this care. I believe we will manage to find a sustainable compromise, similar to what we have done in the area of registered medicines for rare diseases, for which we are now completing a new system for their market entry so that they reach patients as quickly as possible, rather than through the lengthy Section 16 process, as is the case now," adds Minister Vojtěch.

The fact that the EAHAD Congress, which has attracted 2,500 experts from around the world, is being held in Prague is considered by Dr Blatný as recognition of our system of care for people with hemophilia. "In our country, there is an elaborate network of specialised centres at two levels. It therefore does not happen that a patient would be cared for by a physician who has no experience with the relatively rarely occurring hemophilia. According to a survey by the Czech Hemophilia Society, no one has to travel more than about two hours by public transport to receive care. This is not taken for granted even in developed countries. For example, in Nordic countries, the USA, or Canada, people with hemophilia have to travel to their doctor even by plane," notes Dr Blatný. The high standard of care in the Czech Republic was achieved thanks to good cooperation among healthcare providers, payers, and state institutions. Comprehensive hemophilia centres regularly undergo audits by professional societies and the Ministry of Health.

While care for children with hemophilia in our country is, according to experts, excellent, we have room for improvement among adults, especially the elderly. "We often encounter the fact that patients themselves do not want regular prophylactic treatment. They say that their joints are already damaged, they do not want to inject a drug every other day because they already feel it as a great burden. However, the effect of treatment is undeniable even for them. It is precisely here that new treatment may help, which will extend the application intervals, or in the foreseeable future completely replace intravenous applications," adds Dr Blatný.