representation of Haemophilia - Life- Life Changing Gene Therapy explanation by a pharmaceutical consulting company

Disease Awareness

A Haemophilia A Patient’s Experience with Life-Changing Gene Therapy

October 25th, 2017 - 0 Comments

 Due to a revolution in modern medicine, Rahul’s patient care has radically improved and his haemophilia is becoming much more manageable

Rahul used to wait anxiously for an intravenous (IV) drip in hospital rooms. He was regularly injected with an array of viruses to stabilize his ailment. To us, as a pharmaceutical consulting company, Rahul’s patient journey and his ultimate outcome represents hope for patients around the world suffering from a rare bleeding disorder.

Rahul has to suffer through these hospital stays because he has haemophilia A. His body does not produce enough Factor VIII – a protein that clots blood. So, he is at risk of uncontrolled bleeding from injuries. Since childhood, Rahul has been treated with concentrates of clotting factor VIII, which is gradually injected into his veins. But lately, things have changed.

These days, Rahul has stopped Factor VIII infusions and started on a course of gene therapy – something which has radically improved his patient care. His Factor VIII activity has now reached around 30% of the average, which is enough to prevent uncontrolled bleeding from any accident. Now, for the first time in his life, Rahul is finally free from his daily dose of intravenous Factor VIII infusions.

What is haemophilia A and how is it treated?

haemophilia A is an X-chromosome-linked recessive bleeding disorder causing a deficiency in Factor VIII. It occurs in 1 in 5,000 males. haemophilia is treated with prophylaxis, the management of bleeding episodes, and Factor VIII inhibitors. haemophilia patients are treated at comprehensive and specialized haemophilia care centers.

Though there are still market access issues surrounding haemophilia and patients continue to struggle with the disorder, advances in modern medicine are changing the face of the condition. The cloning of FVIII and advances in molecular technologies have raised the possibility of a cure for haemophilia. Gene therapy is one such conceived cure. It is the replacement of a defective gene sequence with a corrected version to eliminate the disease for a lifetime.

Gene therapy happens in the following ways:

  • Ex vivo gene therapy – Transplantable cells are genetically modified to secrete Factor VIII. These cells are then reimplanted into the recipients
  • In vivo gene therapy – A vector (a virus altered to include Factor VIII DNA) is directly injected into the patient
  • Non-autologous gene therapy – Cells modified to secrete Factor VIII are packaged in immuno-protected devices and implanted into the recipients

At diagnosis, patients with haemophilia A will generally have Factor VIII levels of less than 1%. Gene therapy will then be used to raise these levels to at least 5%. An increase to levels over 1% will seriously improve disease symptoms and quality of life for the patient. However, certain haemophiliacs cannot be treated with gene therapy, as the virus used is similar to any other virus that will naturally infect people. In other words, patients may develop antibodies to some viral vectors, rendering the gene therapy redundant.

Exploring recent haemophilia A gene therapy studies

In a recent open-label phase 1/2 study, seven subjects received the highest possible dose of AAV-mediated Factor VIII. The data covered post-treatment follow up for 12-28 weeks. Following the study, six patients’ Factor VIII levels were over 50%, and the seventh patient’s over 10%. Excitingly, this study signifies that clotting function can indeed be restored with the use of gene therapy.

Though the existing treatments with purified or recombinant Factor VIII are effective, shortcomings and patient access issues still remain. The treatment costs are high and repeated intravenous administration is necessary. There are also concerns about the concentrates or plasma products being contaminated with pathogens.

However, the future definitely looks bright for gene therapy, as it could eventually replace other drug therapies for haemophilia A. The market is bound to grow as we enter the next decade, transforming the lives of thousands of people around the globe.

phamax deals with simplifying market access complexities, and we have a particular passion for helping sufferers of rare bleeding disorders. This passion resulted in us establishing RBDNow: a scientific communication and cooperation platform for rare bleeding disorders. To find out how phamax can help you with your market access solutions, get in touch on +41 61821 5687

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