Health Rounds: Editas gene editing treatment restores sight in inherited blindness

Hello Health Rounds Readers! Today we have another potential win for the field of gene editing - restoring eyesight to the blind - in this case, in people with an inherited retinal disease. We also report on a tiny implantable pumping device that may allow small children to live more normal lives while awaiting a heart transplant, and data on a drug that may help people quit nicotine vaping.

Gene editing restores vision in inherited blindness

A gene editing treatment from Editas Medicine EDIT showed promise for treating an inherited form of blindness in a small early trial, researchers reported on Tuesday at the Association for Research in Vision and Ophthalmology meeting in Seattle and in The New England Journal of Medicine.

The 12 adults and two children in the trial were born with a form of the retina disease called Leber Congenital Amaurosis caused by mutations in the centrosomal protein 290 (CEP290) gene. They each received a single injection of the Editas gene editing treatment - EDIT-101 - in one eye.

The main goal of the study was to assess the safety of the treatment. No serious adverse events occurred, the researchers said.

Eleven of the 14 patients experienced “measurable improvements” in visual acuity, use of vision for navigation, vision-related quality of life, and other outcomes, the researchers found.

“To hear from several participants how thrilled they were that they could finally see the food on their plates, that is a big deal,” study leader Dr. Eric Pierce of Mass Eye and Ear and Harvard Medical School said in a statement.

“These were individuals who could not read any lines on an eye chart and who had no treatment options, which is the unfortunate reality for most people with inherited retinal disorders."

Children may be able to wait at home for new hearts

Small children who now spend months in the hospital waiting for heart transplants may someday be able to wait at home instead with the help of an implanted pumping device, preliminary trial data suggest.

In seven small children who were waiting for new hearts, researchers tested the Jarvik 2015 ventricular assist device, which is slightly larger than an AA battery and can be implanted in children weighing as little as 18 pounds (8.16 kilograms).

With the pump implanted, children can take part in many normal activities while they wait for a heart transplant, the researchers said.

Children in the study ranged in age from 8 months to 7 years. They used the implanted pump for an average of 149 days.

Six of the seven eventually underwent heart transplants, although one child had to be switched to a larger external pumping device. One child’s heart recovered, rendering a transplant unnecessary, researchers reported on Wednesday in the Journal of Heart and Lung Transplantation.

For decades, implantable ventricular assist devices have allowed adults on heart transplant waiting lists to live at home, go to work or school, take walks and ride bicycles, the researchers said.

But the only devices available to support small children with failing hearts weigh up to 200 pounds (90.7 kg) and are attached to the child with tubes almost as large as garden hoses. Children using these older devices typically remain hospitalized for months.

“Ventricular assist devices for adults have been improving every decade, but in pediatrics we're using technology from the 1960s,” study leader Dr. Christopher Almond of Stanford Medicine in Palo Alto, California said in a statement.

The U.S. National Institutes of Health has awarded funding for a trial involving 22 children in the United States and Europe.

Because far fewer children than adults need heart transplants, manufacturers have little incentive to develop a miniaturized pump for them, the researchers said.

“Whether this device will survive to commercialization remains unclear because of the financial challenges,” they said.

Drug therapy may help vapers quit

An experimental drug that has been shown to help people quit smoking traditional cigarettes can also help them quit vaping nicotine, a small randomized trial suggests.

In the trial, 160 daily nicotine vapers who had already attempted to quit at least once and were not currently smoking cigarettes were randomly assigned to receive either oral cytisinicline from Achieve Life Sciences ACHV or a placebo three times daily for 12 weeks.

Everyone also received weekly behavioral support.

During weeks 9 to 12 of treatment, 32% of participants who received cytisinicline were successfully abstaining from vaping, compared to about 15% of those who received the placebo.

The U.S. Food and Drug Administration has not yet approved cytisinicline, or any medication, for helping people to stop vaping nicotine, the researchers said on Monday in JAMA Internal Medicine.

An accompanying editorial points out that in the only other randomized trial of a drug to help people quit vaping, varenicline, originally sold by Pfizer PFE under the brand name Chantix, was superior to placebo.

Cytisinicline, however, has fewer side effects than varenicline, the editorial notes.

The drug has been used for decades as a smoking cessation aid by millions in Central and Eastern Europe with a good safety record, the research team noted.

The editorial called the findings “a positive step toward developing targeted interventions to address e-cigarette use,” but said new tools and biomarkers are needed to measure e-cigarette use and determine dosing of treatments.

Nicotine replacement therapies are now dosed on the basis of cigarettes smoked per day, the editorial notes. “Unlike combustible cigarettes... e-cigarettes lack easy visual and quantifiable units” to track nicotine use and concentrations, it said.

Achieve Life Sciences in February said it had agreed with the FDA on requirements for applying for approval of cytisinicline for smoking cessation and nicotine dependence and plans to do so in the first half of the year.