What is haemophilia and how does it affect the body?
Haemophilia is an x-linked recessive congenitally inherited bleeding disorder, which means blood does not clot properly, due to absent or deficient clotting factors, proteins in the blood that control bleeding.
There are two commonly known forms of haemophilia, A and B. Haemophilia A is more common than haemophilia B and is caused by a clotting factor VIII (factor 8) deficiency, haemophilia B is caused by a clotting factor IX (factor 9) deficiency. Both forms cause individuals to bleed longer than normal, and these bleeds can sometimes occur spontaneously. Bleeding episodes can occur in any part of the body but 70-75% of them occur in the joints.
Who is affected by the condition and what risks does it pose?
Since haemophilia is an inherited rare bleeding disorder, it often begins in infancy and is known to be more prevalent among males. In fact, this rare disorder affects about 1 in 5,000 new-born males and an estimated 400,000 people worldwide.
The severity of haemophilia varies from person to person, and depends on the amount of clotting factor missing from their systems. Uncontrollable spontaneous bleeds can be fatal, especially if they occur in the brain or in vital organs.
Inhibitors are a rare but serious complication that forms when the body’s immune system attacks the molecules in factor therapy. An inhibitor neutralise the clotting factors and rendering the infused factor inactive resulting in hard to control bleeds leading to increased severity of the disease including fatalities. is a rare but serious complication that forms when the body’s immune system attacks the molecules in factor therapy. 30% of patients with haemophilia A and 20% of haemophilia B will develop inhibitors.
People with haemophilia especially patients with inhibitors can also experience joint deformities and arthritis. It’s a crippling disorder and can immensely impact an individual’s daily routine and quality of life. Given the course of haemophilia is unique in every individual, it is important that physicians have multiple treatment options to manage bleeds safely and effectively, particularly those that occur spontaneously.
What type of treatments are currently available? How do they work to treat the condition?
As haemophilia is caused by a deficiency of a blood coagulation factor, the global gold standard of care is factor replacement therapy, according to the Centers for Disease Control and Prevention (CDC), the World Federation of Haemophilia (WHF) and the National Haemophilia Foundation. Factor replacement therapies can be made from human blood (plasma-derived products) or genetically engineered cells that have human factor gene (recombinant products). They are infused intravenously by a physician or home therapy on a routine (prophylaxis) or as-needed (on-demand) basis.
Shire’s recombinant factor replacement product, ADVATE, is the most commonly prescribed factor replacement therapy for haemophilia A.
More recently, extended circulating half-life recombinant factor replacement therapies, such as ADYNOVI, have been made available to individuals with haemophilia. ADYNOVI is built on the safety and efficacy of ADVATE, but has a simpler and less frequent dosing schedule, helping to further individualise options for this patient population.
How can personalised medicine be used to treat haemophilia?
For decades, physicians developed haemophilia treatment dosing schedules with an approach based on a patient’s weight. This approach resulted in reasonable outcomes for many, but not all, patients.
Through research in recent years, we have learned that patient activity, lifestyle, as well as the likelihood of joint disease, are also important measures for tailoring treatment to individuals’ needs.
For example, Shire’s algorithm device, MyPKFiT helps physicians evaluate measures along with key health indicators like age and weight, to develop personalised dosing regimens. Personalised care in haemophilia is essential because every haemophilia patient is unique and processes factor ...
(All Rights Reserved)