YOUR HEALTH: A gene therapy that has restored eyesight to children with a rare genetic disorder

MIAMI, Florida – Ro'Nylah Cummings loves tumbling, but just a year ago she couldn't see an inch in front of her face.

"She would walk right into a wall," said her mother Rolanda.

The five-year-old suffered from a rare disorder that would leave her completely blind.

"Lebert congenital amaurosis is a congenital retinal degeneration," explained Dr. Byron Lam, ophthalmologist with the Bascom Palmer Eye Institute.

One in 40,000 children are born with a rare genetic disorder that robs them of their vision.  Now, surgeons are performing an innovative gene therapy treatment that is restoring the gift of sight within days.

Now doctors are performing an FDA-approved procedure that replaces the mutated gene.  It's called Luxturna by Spark Therapeutics.

First, the surgeon creates a retinal detachment.

"And under the retina you put a virus that has the gene that is defective in her," said Dr. Audina Berrocal, a pediatric retina surgeon.

The virus infects the retinal cells producing the normal protein that restores vision.

"Patients even two days after surgery are noticing and doing things that they haven't been able to do before," said Dr. Berrocal.

Ro'Nylah had both eyes done in October 2018.  Her mom noticed a difference as soon as they got home.

"We did like four pages of homework together and she could see it just fine and I'm like 'Wow!'," said Rolanda.

"For me, as a surgeon, it's incredible," said Dr. Berrocal.

But the price tag for the procedure is hefty.

$425,000 dollars per eye.

But Rolanda says knowing her daughter can now see the family pet makes the procedure priceless.

"It's given me so much hope for her."

Rolanda also says her daughter can even see at night now.

NEW THERAPY:   Luxturna is a one-time gene therapy for each eye.  It provides a working RPE65 gene to act in place of a mutated RPE65 gene.  This working gene has the potential to make the visual cycle work properly again.   Luxturna is given by a healthcare professional as a surgical injection beneath the retina of each eye.   One eye is treated at a time.   After the first eye is treated, the second eye will be treated at least 6 days later.   The most common side effects that may occur with LUXTURNA are redness of the eye.

In some cases, insurance covers part or most of the cost.

Doctors say the treatment seems to have a more dramatic impact on children than adults with the same condition. but they say the therapy opens the door for future gene therapies and that may drive down the cost.

Follow up studies are only three years out so the long- term benefits of Luxturna are unknown.

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.

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