Long gone are the days when people with haemophilia had only ice to treat their bleeds. Thanks to development by the pharmaceutical industry, several new therapies for haemophilia are well into clinical trials, giving real promise to a future for people with haemophilia that “has never looked so bright,” says to Brian O Mahony, Chief Executive of the Irish Haemophilia Society (IHS), President of the European Haemophilia Consortium, and a person with first-hand experience of the condition.

 

Giving patients a voice

 

The IHS exists to give a voice to people with haemophilia, as well as providing the help and support they need to live as fully as possible with this life-long condition.

In haemophilia, people inherit a defective gene that results in the liver not making make enough of a protein factor that allows blood to clot. There are two main types of haemophilia, A and B, according to the blood clotting defect that is diagnosed.

Symptoms of uncontrolled haemophilia include bleeding that takes a long time to stop, oral health problems, skin that bruises easily, and pain and stiffness around joints, such as elbows, because of internal bleeding. People with haemophilia can experience limitations to daily life including the need to take regular injections, avoid contact sports such as rugby, and to take care with common medicines such as aspirin and ibuprofen. As a child growing up with haemophilia, Mr O Mahony remembers missing a lot of time off school.

 

Access to better treatment

 

Current standard preventative care involves intravenous injections of replacement coagulant up to three times a week, combined with different treatment on demand if a bleed does occur. As well as the known side effects of haemophilia medications, people who inject themselves regularly can experience problems with vein damage, as well as pain, stress and limitations on quality of life.

Through the IHS, people with haemophilia are given a formal say in product development and marketing, and with exciting results: there are currently eight companies developing gene therapy for haemophilia, which promises to reduce the current injection schedule from twice or three times a week to one injection every five years.

In gene therapy for haemophilia, missing DNA is injected into the liver, which can then manufacture the important blood clotting factor. The longest established and most successful gene therapy trial to date is that of University College London and the Royal Free Hospital in London. They have already treated 10 people with severe haemophilia type B and achieved steady effective coagulation rates of between 1% (minimal protection against uncontrolled bleeding) and 6%, following a single injection given up to five years ago.

Their work has prompted several other companies to begin work on gene therapy, including, for haemophilia type A, producing results that appear to more than double the coagulation rates seen in trials so far.

 

Ireland’s record of development

 

Ireland has an enviable record in leading the way in novel therapy use. Since 2017, Ireland has scored two firsts by switching people with both types of haemophilia to first generation longer-lasting ‘extended half-life’ (EHL) treatments, and take-up of these drugs continues to grow. Other approaches under development include the possibility of subcutaneous injections, which are less complex and avoid vein damage, even for people with the hardest-to-treat forms of haemophilia.

Mr O Mahony describes this as “a very exciting development. This group of people have more bleeding episodes and a marked reduction in quality of life. It is timely to see better treatments emerge for this greatly under-served population.”

In another development, drugs that mimic the effect of the defective blood clotting factor are being studied, with some trials achieving a 100% reduction in bleeds with only mild or moderate adverse effects.   

This, says Mr O Mahony, raises the enticing prospect of an effective cure for haemophilia. He says: “There is a real possibility of transforming the quality of life for people with haemophilia in the next five to ten years.”