Replacing the haemophilia gene

In August 2016, Lucina featured two new treatments likely to be highly effective in treating haemophilia (doi101136/archdischild-2016-31162). Now here’s another, even more radical, which promises to actually correct the genetic defect. The X-linked haemophilia gene, which spread to all the royal houses of Europe in the early 20^th century by virtue of Queen Victoria’s fecundity, affected the heir to the Russian throne and was arguably responsible for the 1917 Russian revolution.

A successful gene therapy study involving patients with haemophilia A from 5 UK centres has now been published (Rangarajan S et al. NEJM 2017. doi:10.1056/NEJMoa1708483). This follows a successful similar trial for the rarer haemophilia B (doi:10.1056/NEJMoa1708538). Although the subjects were all adult men, its implications for haemophiliac children are obvious. Only nine men were recruited, but the results were striking. Each received a single intravenous dose of a specifically adapted adenovirus (AAV-5) which acted as a vector for...

from Archives of Disease in Childhood current issue http://ift.tt/2ohMutS