health officials recently approved the first gene therapy treatment for
an inherited disease – the type that can pass from parent to child.
The treatment improves the sight of patients suffering from a genetic
mutation that destroys their ability to see. It is the first gene
therapy approved where a corrective gene is given directly to patients.
People with the disease usually start losing their sight before they are
18. This often progresses to total blindness. The gene that causes the
disease could suddenly appear when a child is born with a copy of the
gene from both parents.
Only a few thousand people in the U.S. are thought to have the
Patients receive the therapy, called Luxturna, through two injections,
one for each eye. These replace the problem gene that prevents the
retina, a tissue at the back of the eye, from changing light into
electronic signals sent to the brain.
The company says the reason for the high price is due to their
prediction that Luxturna will be given only once, with lasting positive
effects. To date, the company has researched patients in a study for as
long as four years and has not seen their vision worsen.
But it took many years to develop the science and technology. The first
animal tests happened in 2000 and the first human tests in 2007.
"We didn’t know what genes caused the disease, we didn’t have animal
models with those genes, we didn’t have the ability to clone genes and
deliver them to the retina — so it took time to develop all that," said