Groundbreaking research offers a potential cure for the fatal blood disorder, haemophilia. Over two decades of work has landed the Royal Prince Alfred Hospital Researches with what may be a permanent remedy to the disease that affects approximately 500 men in Australia.
Haemophilia is an inherited disorder, in which defective or missing clotting factors mean it is very difficult to stop bleeding. This impairment to form blood clots means patients are very vulnerable and fragile to injuries, making it difficult to comfortably carry out every day activities. In severe cases of the disorder, the excessive bleeding can be life-threatening.
Until now, the disorder has necessitated regular preventative injections, occurring up to three times a week. The bleeding disorder often hinders children from participating in sports and playing freely, whilst sustaining an overall restriction on those affected for the duration of their life.
However, a recent case study conducted by a team of Australian and US researches has proved overwhelming results, with ten out of ten tested adults showing improved blood clotting abilities. Nine out of the ten patients experienced no bleeding throughout the decade they were monitored, while eight of them required no further infusions.
The clinical trial consisted of injecting haemophilia B patients with a modified gene called Factor IX, which is intended to produce a coagulant subject. The patients were found to maintain the blood clotting factor once the initial infusion was given, suggesting a possible life-time cure.
With the success of the trial, scientists are especially excited to extent this streak by finding a cure for haemophilia A, which is the most common form of haemophilia. The two types have similar symptoms, but are caused by different clotting factors. Haemophilia A is related to the deficiency of factor VIII and affects more than 2700 Australians, most of whom are male.
There is also hope that these new findings will translate into breakthroughs in gene therapies for a multitude of other disorders, such as blindness. State of the art cell therapy facilities and emerging technologies have made these research efforts possible, offering exciting possibilities for the future of medicine.
Further research is still required to uncover the long-term effects of the treatment and its safety for patients, however the results are looking very promising. Its impacts surpass single generations, given its genetic nature, meaning carriers of the gene can feel comfort in knowing their children will not be restrained by the disorder.