Drug restores sight to patients with inherited blindness

Summary:The disease strikes men in their 20s, causing total vision loss within 6 months. With the new drug, some patients were able to read lines on an eye chart again.

For the first time, a hereditary form of vision loss has been delayed or reversed by a drug!

Called Leber’s hereditary optic neuropathy, this blindness is a disease of the mitochondria – the energy-generating power plants of our cells – inherited from the mother. It usually strikes men in their 20s, and total blindness sets in within 6 months of the first symptoms.

There had been no way to halt its rapid onset, but 6 months after taking a new drug called idebenone, some people whose sight had already begun deteriorating reported huge improvements in their vision.

The drug penetrates into the mitochondria, mopping up toxic free radicals to enhance mitochondrial function.

A team led by Patrick Chinnery of Newcastle University gave the new drug to 55 people (and placebos to 30).

  • After 24 weeks, 11 people in the test group could read an extra two lines on a standard vision chart.
  • And 9 people who couldn’t read any letters at the beginning of the trial could by the end.
  • The drug was particularly beneficial for those who had better vision in one eye than the other, suggesting that it’s easier to treat the disease at its onset.

“We have seen patients who couldn't even see an eye chart on the wall go on to read the first line down – and some even attempted the second line,” Chinnery says. “For these patients, it can mean a vast improvement in their quality of life."

There were no serious side effects to the drug, and if carriers of the mutations can be identified through genetic testing, it might be possible to prevent their vision loss altogether by giving them the drug before symptoms develop.

The drug is marketed as Catena and manufactured by Santhera Pharmaceuticals, which is now seeking marketing approval from the European Medicines Agency.

The results were published in Brain last week. Via New Scientist.

Image by Jeff Dahl via Wikimedia

This post was originally published on Smartplanet.com

Topics: Innovation


Janet Fang has written for Nature, Discover and the Point Reyes Light. She is currently a lab technician at Lamont-Doherty Earth Observatory. She holds degrees from the University of California, Berkeley and Columbia University. She is based in New York. Follow her on Twitter.

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