Haemophilia: a case study
Back in the 70s, inserting the missing factors into the blood that haemophiliacs lack required regular infusions. Tragically, many sufferers were infected by HIV, as donated blood was not properly screened.
Then in 1997, a revolution.
RFCs hit the market.
Produced through genetic engineering, no blood donations are required. This reduces viral transmission rates massively. However, as many as 30% of haemophiliacs develop “inhibitors”, which stops it working and all still require regular infusions.
Pharmaceuticals have been working on a permanent solution – gene therapy. If the gene that causes haemophilia can be corrected, then haemophiliacs could produce their own blood clotting factors. This could be the cure.
And it doesn’t stop there.
Gene therapy could be used to cure diseases caused by a single underlying genetic mutation. Many rare diseases fit into this category: cystic fibrosis, sickle cell anaemia and polycystic kidney disease. The treatment of rare diseases is a multi-billion dollar market. The opportunity for drug makers is huge.
But there’s a danger.
Being ahead of the herd can bring advantages, but it also carries risks.
One gene therapy, Glybera, which treats familial lipoprotein lipase deficiency, gained EU clearance but has since been pulled. It couldn’t be commercialised: doctors are cautious on new treatments that potentially carry longer term health risks and extremely large price tags.
This hasn’t stopped pharma putting billions of dollars of R&D into gene therapies.
Some hurdles remain but expect to see many more gene therapies approved over the next 3-5 years.