Healing haemophilia A and B through gene therapies is closer to becoming a reality

“Haemophilliawill be cured by the year 2000”–the statement of the World Health Organization in March 1994. 23 years later we can finally say that we are closer than ever to healing haemophilia through gene therapies. Tworecent studies published in the New England Journal of Medicine announce a revolution in the treatment of haemophilia A and B, showing the first encouraging results of gene modification encoding coagulation factors VIII and IX.

“The first thing I can say is that we were impressed by these results. Bleeding rates have reached zero or close to zero, and quality of life has been unimaginably improved”Prof. John Pasi, one of the investigators from the London School of Medicine


Main information from the studies:
• following the administration of the gene therapy the values of the coagulation factors remained within normal limits even after 1 year
• haemorrhagic episodes decreased from 16 per year to less than one per year
• a sustained expression of the coagulating activity of factor IX was noticed
• coagulation factor prophylaxis could be interrupted and haemorrhagic events were reduced to or near zero
• there were no cases of severe hepatic toxicity and no immune response against the new treatment.


Why use gene therapy and not the administration of the missing coagulation factor, as it has been until now?

Haemophillia  is a genetic disease involving disorders of the normal coagulation process, causing prolonged bleeding, and comes in two main forms: 80% of patients have mutations in the gene encoding coagulation factor VIII – haemophilia  A and 20% have mutations in the gene for factor IX – haemophilia  B.

In developed countries, the therapystandard for patients with haemophilia A (which is the most common type of haemophilia ) is currently the prophylactic administration of factor VIII. Where this option is not available, it is practiced factor on-demand administration (on-demand therapy) when needed.

The possibility of exogenous administration of factor VIII represented a major improvement in the quality of life of patients, significantly decreasing hemorrhages.Nevertheless, this prophylactic treatment consists in the administration of an intravenous injection, 3 times a week, for life, which raises problems of adherence to therapy.

At the end of the 50s, fresh frozen plasma was the main treatment for haemophilia. In the mid-1960s, cryoprecipitate was introduced. In 1984, recombinant factor VIII could be produced. In 2017, the start of gene therapies seems promising.

Even though prophylaxis has been widely adopted in Europe and the US, bleeding that causesjoint damage with a significant impact on the patient’s lifestyle is still a problem, especially if the factor VIII level reaches below 1 IU / dl.

The introduction of large-scale genetic treatment could mean an historic moment in the development of haemophilia, and new studies mark the start of the introduction of a CURATIVE treatment for haemophilia.

“I wouldn’t say they have found the cure for haemophilia, but for the first time the future seems promising. The real innovation is that they have achieved a consistent result. I have never seen that before” – Federico Mingozzi, geneticist at the INSERM research institute.






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