A funny thing happened on the way to this week’s blog post. I’d planned a guest post from a father who very recently observed his young son seeing for the first time thanks to gene therapy. I’d read the father’s blog from a link on Facebook . The boy is participating in a phase 3 clinical trial (efficacy) of gene therapy for Leber congenital amaurosis type 2 (LCA2). My book The Forever Fix: Gene Therapy and the Boy Who Saved It chronicles one of the first participants in the phase 1/2 trial who had his first eye treated in 2008 — he’s now on a poster for the Foundation Fighting Blindness and sees so well that he can hunt turkeys (he lives near me in the wilds of upstate NY. I don’t hunt).
The phase 3 trial, according to Facebook posts, has a rather unusual design. Participants are randomized to have two eyes done days apart, or the gene therapy in a year, to serve as a control group. When I couldn’t find any news releases or media reports to corroborate the design, and the description on clinicaltrials.gov curiously lacked detail, I emailed someone directly involved in the trial.
Early Tuesday morning I got a call – too important for an email – from the clinical trial director, asking me not to run photos or mention names here. The reason: part of the assessment of the gene therapy’s efficacy is for the subject to maneuver through a mobility course, a task impossible for a person with LCA2. The evaluators don’t know which participants had gene therapy and which didn’t. And while the evaluators know to stay away from Facebook, they could stumble upon this blog and see a face that could a year from now bias their observations. The lack of information about the clinical trial protocol I’d encountered was intentional.
But I still want to run the father’s blog, so I’ll call the boy Cliff. The events happened before the family returned home after the gene therapy. I’ve tweaked it enough so it can’t just be plopped into google. I hope. I can’t blame the parents for wanting to shout this news from the rooftops, but I do want to protect the clinical trial. So the photos are of other kids.
“It’s been 16 days since Cliff had his surgery on his left eye, and 9 days since his surgery on his right eye. The first 24 hours after each surgery, he had to keep his eye patched. Then for 14 days, he had to patch his eye while he slept. For 7 days, both eyes were patched at night. These patches are not soft, but rather perforated metal held in place with tape. Needless to say, they can be a bit uncomfortable.
The effects can take anywhere from 7 to 14 days after the surgery of the second eye. At Cliff’s age, it can be difficult to verbalize what changes, if any, he is experiencing. As his parents, we’ve been hypersensitive in the hopes of noticing something. And so far, we have noticed things, some more significant than others.
Four days after his left eye surgery, we were in a sunny parking lot. Cliff looked at his mother and said, “your hair looks different.” Obviously, this could mean a number of things, and it was too soon to tell. But I made mental note of the comment.
About 3 or 4 days after the second surgery, he asked for noodles. I stepped out to pick them up and he came along. It was already dark. We usually have to tell him to beware of an upcoming step or change in the road, otherwise he’d trip. On this day I forgot to tell him, and noticed that he just stepped up and down the curb while crossing the street. To test if it was just a fluke, I started to walk off and on the sidewalk. We were holding hands … was he following me, or could he see the curb? Again, too soon to tell… but definitely promising.
My aha moment came at dinner in a dimly lit restaurant. Usually, we would point out to Cliff what food was where on his plate, and we’d watch him touch his food as he ate. He would never look down at his plate, because he simply couldn’t see it in restaurants such as these. Most nights, he would get frustrated, and we’d end up helping him eat or feeding him.
But this night was different. They brought out his favorite meal: chicken strips, fries, mac & cheese, and ranch dressing. I was tucking a napkin into his shirt, and before I could help him start eating, he started on his own. I watched for a bit, as he picked up his fork and dove right in. I wanted to be sure that he was actually seeing his food, so as his mom distracted him, I rotated his plate 180 degrees and moved his fork. Now all the food was in different places. He took a drink, reached down, picked up his fork and started eating.
Finally, today, at dinner, Cliff said ” Daddy – you were sleeping. I had to use the potty… and my patch was on and the lights weren’t on, but I could see the potty with my left eye.”
I got so excited, I turned a few lights off, and started asking him to tell me how many fingers I was holding up. I left enough light on so that I could see… and started asking. He was getting them right… prior to the procedure, in that amount of light, there’s no way he would have been able to do it.
It’s amazing to experience this with him. Watching these baby steps, which may seem insignificant to some, brings tears to my eyes. Tasks that are so simple to the sighted are often times very difficult to those with visual impairment, especially while young. It makes me so happy to see him overcome these challenges, even if they are slight.”
Funding and plans are already well under way to bring gene therapy for LCA2 to the ophthalmological community, once FDA approval is granted. I look forward to the time when the gene therapy that seems so miraculous today becomes a routine intervention so early in a child’s life that he or she never has to navigate in a darkening world.