La Paz Hospital in Madrid is the first centre in the Community to apply gene therapy for haemophilia. With a single injection, the patient begins to produce the missing protein on their own.
According to information from cope.es, La Paz Hospital in Madrid has been the first in the Community to apply gene therapy for haemophilia, a disease that affects blood coagulation and is historically known as the "royal disease". The technique, as explained by scientific communicator Jorge Alcalde on the programme 'Poniendo las Calles', aims to change the way patients are treated.
Alcalde, who is also a journalist and director of Esquire magazine, described the disease as "not very common, but well-known and can be relatively severe". Haemophilia consists of a failure in the coagulation cascade, the process involving up to 20 proteins. Affected individuals cannot produce factor 9 due to a genetic disorder, which increases the risk of bleeding out during a haemorrhage.
The defective gene is located on the X chromosome. Women have two X chromosomes, so a backup copy compensates for the defect and they are carriers. Men only have one X chromosome, so male offspring are the ones who inherit the disease.
However, if we have it, men, since we only have one X chromosome and that gene is there, we don’t have a replacement gene
The nickname comes from its high prevalence in some European royal families, including the Bourbons in Spain. Alcalde clarified that "it is a disease that can affect anyone".
The conventional treatment involves periodically injecting the factor 9 that the body does not produce. The new gene therapy does not provide the protein from outside: it uses an inactivated virus that, by infecting liver cells, introduces a proper version of the gene that produces factor 9.
You have taught your body to produce it, and that sometimes works with a single injection
According to Alcalde, the therapy avoids a lifelong constant treatment requiring permanent infusions. The cost, however, is high: the price ranges between €2.8 and €3 million per treatment, placing it among the most expensive drugs in the world. Regarding whether it is worth it, Alcalde stated: "In health, it is always worth it". The Spanish healthcare system included it in the catalogue of treatments at the end of 2024.
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