Haemophilia is a rare and serious X-chromosome linked congenital bleeding disorder that affects the blood's ability to clot, meaning that people with haemophilia bleed for a longer time than normal. It is estimated that about 1 in 10,000 people are affected by haemophilia, with 450,000 people living with haemophilia worldwide.
Haemophilia is characterised by deficiencies of coagulation factors, and is typically passed down from parent to child, although about a third of cases are caused by a spontaneous mutation. There are two different types of haemophilia, each associated with deficiency of a particular coagulation factor.
The most common type is haemophilia A, where the person does not have enough coagulation factor VIII (FVIII).
Haemophilia B is less common, with people not having enough coagulation factor IX (FIX), representing only 15–20% of total haemophilia cases.
The genes for both coagulation factors are on the X chromosome, which is why it mainly affects males who inherit an affected maternal X chromosome.
In severe cases of haemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (known as spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. This can lead to chronic pain and limited mobility.
Medication is given as injections, either when a bleed occurs (on demand therapy), or on a regular basis to prevent bleeds from occurring in the first place.
Many people with haemophilia are still undiagnosed or inadequately treated.
Our scientists are exploring innovative long-acting and subcutaneous treatment solutions for haemophilia and rare blood disorders. These solutions are aimed at reducing the current treatment burden and improving clinical outcomes, and will be complemented by research into oral treatments and gene therapy.
We strive for offering better quality of life to people living with haemophilia and other rare bleeding disorders.
We often work in partnerships to discover novel targets and innovative compounds and technologies that address unmet medical needs. Our focus is on:
Today, our pipeline has exciting potential to ensure we are at the forefront of finding the next generation of innovative medicines.