A gene therapy treatment for Haemophilia A that could help lead the way towards a cure

Haemophilia sufferers are burdened with the demands of replacement therapy, frequent infusions and a potential immune response that may neutralise the effects of the treatment. However, with new advances being made in gene therapy, a cure is within reach and we helped play a part.

The gene therapy study developed by BioMarin, has now been published in The New England Journal of Medicine, titled ‘AAV5–Factor VIII Gene Transfer in Severe Hemophilia A’, this groundbreaking study has the potential to pave the way for a cure for Haemophilia.

Vector-mediated gene therapy is where vectors act as transmission devices to implant DNA into specific cells, with the aim of correcting underlying deficiencies. Gene therapy has been successfully used in the treatment of many genetic diseases, including Haemophilia B. However, treatment of Haemophilia A using AAV vectors, has been plagued by challenges due to vector size. Rangarajan et al explored an exciting treatment, by conducting a dose-escalation study, using a new gene correction technique (AAV5-hFVIII-SQ) and our Clinical Research Facility is where the dosing for this study was facilitated.

The exciting results reported sustained levels of factor VIII after a single infusion of AAV5-hFVIII-SQ. 6 out of the 7 patients who were infused with a high dose of the treatment, showed normal levels of factor VIII over a period of 20 to 24 weeks. The seventh patient showed factor VIII levels associated to mild Haemophilia.

To read more about the advances being made in the treatment of Haemophilia A using gene therapy, have a look at the exciting results in the publication linked below.


A gene therapy treatment for Haemophilia A that could help lead the way towards a cure