字幕列表 影片播放 列印英文字幕 Defects in retinal genes cause a devastating from of childhood blindness. Gene therapy is really, I think at the forefront of treating retinal degenerations. There are now over 20 clinical trials addressing various diseases in ways that we didn't really think possible before. Come on. Having to make a decision on his behalf has been a real struggle. This treatment could change our lives, this could stop a truly terrible disease. As we tackle the problem of childhood blindness, this is going to be a real breakthrough in our ability to change the course of the disease in a way we never thought possible. Maverick is my firstborn child, he has been the most amazing child to raise from the day that he was born. I didn't have a lot of experience with babies before I had him, but I just noticed that he had a blank stare. Checked his tracking vision and it was non-existent. We went through all the genetic testing and it came back positive for Leber's congenital amaurosis with a specific genetic marker of RPE65. The cones and the rods in the eyes don't allow for light perception so he is legally blind with specifically low-light blindness. He also doesn't have peripheral vision or vision below his waste. It's almost tunnel vision. Ahh, I need a parachute now, help me! Up here is my room, and these are my pillows. This is my eye patch. It has to be the right lighting for him to see. Once the sun goes down, his world is very dark. We take him inside, turn on all the lights until it's time for bed. Maverick's condition is degenerative. There is no timeframe of when the degeneration will take place, but it is a well-known fact that he will be completely blind in later years. It took his thoughts quite some time to subside into sense of fire and sulfur, a torched landscape. In December of 2017, the FDA approved gene therapy for Maverick's specific condition and so we went and talked to Dr. Nagiel shortly after it was approved. Oh, mine goes right behind you. Maverick was six years old when I first met him, and this family, for a long time had struggled with getting a diagnosis, and then we're very excited finally to hear that there was a treatment. Luxturna is a gene replacement therapy whereby we're delivering a normal health copy of the RPE65 gene to patients who have two defective copies. This medication is a virus which has essentially been modified so its only job is to deliver the genetic material. We deliver this virus with a very fine needle underneath the retina and then we have a healthy copy of a gene that's been missing in the cells that normally make it. Unfortunately with this disease, the cells that absorb the light, the photo receptors, are constantly degenerating and there gets to be a point where there simply aren't enough cells to function even if we were to deliver that gene back. So it makes a lot of sense to treat earlier pediatric patients, young patients when they have those cells there and just need the normal copy of the gene to make the protein functioning again. So treatment early in children is really the way to go to achieve the best results. Here at Children's Hospital Los Angeles, we've treated 17 patients, so 34 eyes. We have data that the treatment effect is stable without any loss in function. Five years ago, there were no treatments for this disease and for the bulk of retinal generations, these patients, if they were lucky, they got a diagnosis with genetic testing but beyond that, there wasn't much that we could do aside from get the most out of the vision that they have. Since the FDA approval of Luxturna, that's really opened the door to not just treating this relatively rare retinal degeneration, but essentially any retinal degeneration. This has been probably the most difficult decision that I've ever had to make in my entire life. It makes me very nervous because it is so new, if it doesn't go well, it's my fault because I chose to do this to my child. I honestly feel like I hit the jackpot when I had Maverick. I don't know any other seven-year-old kid that could handle everything that he has been through with such appreciation for life, you know? He is willing to do or try anything. All right, here we go. After today, our life could potentially change forever. I love you. I love you, buddy. He might go back home and for the first time have fun with his friends by the pool as it's getting dark, ride his bike at dusk, go trick-or-treating, these are the sort of improvements that really change a child's life and the motor confidence that comes with ambulating and interacting with the environment in a way that they couldn't before, I think really has life-long consequences. It takes seven days for the corrected DNA to be absorbed so at seven days, he could potentially see again. It just comes in very small doses and it could take up to four months, they said. Maverick had his two surgeries, and we are home. The first day that I really noticed that something was different was riding in the car, and he said mom, I'm just looking outside and I'm seeing what is outside the window, like I've never been able to see through the windows and it seemed so small but it was really life changing for him to be able to look out of a window. Okay, listen to me. One more game of tag. Maverick, sit. Ready? One more game. One, two, three, four, five, I'm coming out! I see you guys! In the past seven years, we don't even come in the backyard at night. This is a true miracle. You can not stop me! Okay, I've got Maverick. Willow, come here, get him. He has a whole new level of independence and he is ready to conquer anything that is given to him.