Monthly injection shows promise for haemophilia

Filip Vukasin

4/04/2023 3:54:13 PM

Two simultaneous studies investigating a novel, monthly preventive injection for haemophilia show it is effective in reducing bleeds.

A vial of blood.
More than 3100 people in Australia are currently diagnosed with haemophilia.

Haemophilia is a lifelong, inherited bleeding disorder mostly affecting men. People with haemophilia A and B bleed spontaneously into joints or muscles and may take much longer to stop bleeding after injury.
The condition can be debilitating, but new research published in The Lancet and The Lancet Haematology shows a monthly, prophylactic injection called fitusiran is effective in reducing bleeds in patients with moderate-to-severe haemophilia A and B.
Dr LK, a cardiothoracic surgeon-in-training who also has haemophilia but did not wish to be identified, told newsGP the research will be a welcome relief to many as haemophilia has a profound effect on people.
‘There is a huge incidence of depression in all people with chronic illness, regardless of severity,’ he said.
‘When I was on a trip and developed a psoas haematoma, I returned to start my job as an intern in a wheelchair.
‘It was hard to put on a brave face and carry on, to not let people down. You feel like you’re dragging others down.
‘It’s an additional weight that even people with mild, chronic illnesses like me carry.’

Classic treatment for haemophilia involves on-demand or prophylactic clotting factor concentrates; however, after treatment some people can develop antibodies known as ‘inhibitors’. Inhibitors are developed in approximately 30% of people with haemophilia A and 10% of people with haemophilia B.
When people have inhibitors, treatment for haemophilia becomes more complex and can involve immune tolerance induction, high dose clotting factor concentrates and bypassing agents.
But the two new randomised controlled trials show fitusiran, a subcutaneous injection, reduces bleeds in people with haemophilia regardless of whether they have inhibitors or not.
The Lancet study showed 66% of participants with inhibitors who received monthly fitusiran injections had zero bleeds after nine months, compared to 5% who were given the standard, on-demand bypassing agents.
Meanwhile, in the Lancet Haematology study, 51% of participants without inhibitors given fitusiran experienced zero bleeds, compared to 5% who received the standard, on-demand clotting factor concentrates.
Dr LK says the results represent a great advance in treatment options.
‘These are good steps, and it will benefit a lot of people with moderate-to-severe haemophilia,’ he said.
‘It will make their lives better and much safer.’
However, he also notes that as cost has a large part to play in haemophilia treatment, most research to date has focused on moderate-to-severe bleeding disorders – a shortcoming he would like to see addressed in future studies.
‘I just wish there wasn’t a complete absence of research in treating mild haemophilia. None of the studies are for mild types because that’s not where the money goes,’ he said.
‘The issue is that all the studies are on more severe patients, which are harder to treat and more expensive for the health are system.’
More than 3100 people in Australia are currently diagnosed with haemophilia. Haemophilia A is more common at a rate of approximately one in 6000 males, while haemophilia B is rarer.
In 2018, direct and indirect costs of moderate-to-severe haemophilia A were approximately $111 million, equating to a yearly per patient cost of $120,000 to the Australian healthcare system.
The Federal Government also funded a new treatment in 2020 called emicizumab, which is a subcutaneous prophylactic for haemophilia A at a cost of over $675,000 per year. However, breakthrough bleeds can still occur.

It is why small interfering RNA (siRNA) therapies like fitusiran, that show promise by interfering with the production of specific proteins and target antithrombin to increase clotting ability, could prove lifechanging.
But while it is the first prophylactic treatment that works for both haemophilia A and B patients with or without inhibitors, it is not yet approved for use outside of clinical trials. For Dr LK, that means the wait for more effective treatment is still a little while away.
‘For people like me with mild haemophilia, we are less expensive to treat because we only have one to two bleeds per year and we have less restrictions,’ he said.
‘While it’s understandable that it’s not cost effective to spend a substantial sum of money a year to allow someone with mild haemophilia to enjoy more activities from life, the psychosocial impact of growing up with it is one that’s difficult to quantify.
‘It’s very difficult to put in a cost-benefit analysis, and it accumulates over the years.’
Haemophilia Foundation Australia has information about bleeding disorders, support groups and a list of specialised Haemophilia Treatment Centres around Australia.
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