This is the fifth in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for RPE65 genetic mutations and as the first-ever genetic therapy in the United States for an inherited disease.

Life looks a lot brighter for Creed Pettit, the Florida boy who just became one of the first LCA-RPE65 patients to have eye surgery using the brand-new gene therapy treatment LUXTURNA™.

For the very first time, Creed built the entire track of his wooden train set, and he did it in the garage rather than in the house with all the lights on.

“He played with it for over two hours,” said his mom, Sarah St. Pierre Pettit. “He played with it like a kid should play with it.”

Before the surgery, Creed and his mom would have what she called “taught play,” with her little boy doing only what he was taught or told.

“All of a sudden, he was playing with these things, interactive play, putting doors on the train, making the bridges of the train set.”

Even digging into the box with the train-set pieces is a new experience. Before, Creed wouldn’t look in the box because it was dark, and he couldn’t see anything. Now, he’s looking into the box and pulling out curved pieces of track.

Creed is back home in Mount Dora, Fla., from having his second surgery, this time on his left eye, on March 28 at Bascom Palmer Eye Institute in Miami.

He and his family came home to a house decorated by friends with streamers, balloons and a big home-made sign that said, “Welcome Home Creed.”

Creed is one of a handful of the first LCA-RPE65 patients to receive the genetic therapy treatment LUXTURNA™ developed by Spark Therapeutics.

The U.S. Food and Drug Administration granted approval of the revolutionary drug in December. Soon after, preparations began for administering the treatment to the first patients the week of March 19. The surgery entails injecting under the retina a human-engineered virus containing copies of a normal gene, prompting the making of more RPE65.

As Creed came into the operating room last week, he heard “I’ll Be There For You,” coming from the speakers; it’s the theme song from the television show “Friends,” and the same song Creed and his mom – and the whole surgical team – sang while waiting out a short delay before his first eye surgery.

After performing surgery on his right eye on March 21, Dr. Audina M. Berracol found new growth in the eye’s photoreceptor. Creed will return to Miami on Monday for high-resolution scanning, called Optical Coherence Tomography, (OCT) on his left eye.

Back at home using just basic lighting, Creed reads “Diary of a Wimpy Kid.” And he looks down at his food now.

“It’s really, really neat,” Sarah said. “Every day has just shocked me.”

He watched “Peanuts,” one of his favorite shows, and then went on a long walk.

“It’s just so cool to watch him. He has his sunglasses on, he’ll just stare, looking at different trees, touching them.”

No more flashlights, either. Years ago, Creed’s mom outfitted their home with bright lights and lots of flashlights, so he could see things if they dropped under the table.

The third-grader also stopped by his school to see his friends and he kept looking at the designs on the floor and asking people what they were eating.

“It’s a hamburger,” his mom said. “It’s almost like teaching a toddler all these things.”

Speaking of school, after Creed returns from Miami for his follow-up appointment on Monday, he goes back to school Tuesday and plans to wear a new T-shirt, much to his mother’s chagrin.

Sarah wanted to buy Creed something special to celebrate the success of the surgeries and his new-found look on life. She wanted to buy him a watch or something cool at one of the popular stores.

“Look, here’s a neon one,” she said, pointing to a big watch. “Anything you want.”

Instead, he picked out a shirt with words on it, “totally not something I’d ever buy,” Sarah said. The shirt says, “I was going to do my homework, but my hands are full,” and shows an image of two hands holding a game console.

She thinks he picked it out because he could read the letters.

“He’s never gotten in trouble (at school). He thought it was hilarious that it said that.”

Sarah said she was thankful that her mom and her fiancée accompanied her and Creed to Miami and helped keep her calm after waiting nine years for Creed’s treatment come to fruition.

“I think I cried harder on the second one,” Sarah said after this latest surgery.

“Oh my gosh! It’s done! We’re done! We beat this! We never stopped fighting and look where we are now.”

Read Creed’s story

Beginning to See the Light

Annnnnd We’re Off!

Ready, Set, Scheduled

The Road To Treatment

This is the fourth in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for RPE65 genetic mutations and as the first-ever genetic therapy in the United States for an inherited disease.

A rainbow drawn over Creed Pettit’s left eye on Wednesday, March 28, marked the correct eye to receive surgery, but even more so, the arc symbolizes what the third-grader from Mount Dora, Fla., hopes to see after his recovery.

The 9-year-old with LCA-RPE65 underwent his second surgery that afternoon –  this time on his left eye – with the revolutionary genetic therapy drug LUXTURNA™.

Dr. Audina M. Berracol of Miami’s Bascom Palmer Eye Institute performed this surgery on Creed’s eye, as she did a week ago on his right eye.

Creed’s mom, Sarah St. Pierre Pettit, said in a Tuesday email that her son’s right eye shows distinct improvement since surgery last Wednesday, March 21.

“The doctor already saw new growth in the photoreceptor yesterday (Monday, March 26),” Sarah said about improvements already showing in the right eye. “She was so excited.”

Six days after the first surgery, the boy’s mom wrote, “Creed’s spirits are so high.”

“He keeps saying ‘I did it without light,’ when he reads or eats or draws. It’s so cool,” Sarah said. “I am loving every moment but must admit I’m completely exhausted.”

She said that he is asking so many questions about what things are. “It’s wild.”

In 2011, doctors diagnosed Creed at almost 3 years old with LCA. He later received a confirmed genetic diagnosis of LCA-RPE65. Sarah tried to get him into clinical trials for LUXTURNA™ when he was 3 and 4, but her little boy could not perform tasks required by the study, such as trying to navigate a maze.

Preparation for Creed’s treatment came shortly after LUXTURNA™, developed by Spark Therapeutics, received Food and Drug Administration approval in December and around the time of Creed’s 9th birthday in January.

He had told his mom that after surgery, he couldn’t wait to see a real rainbow and he couldn’t wait to throw his canes in the lake.

Since Creed’s first surgery, Sarah has taken photographs of him pointing to her without any lights on and smiling at the camera after being able to see it.

Before the first surgery there had been a few delays, so to help pass the time, Creed and his mom sang “I’ll be there for you,” the theme song from the television show “Friends.”

Sarah said she cried a lot.

Before today’s surgery, Sarah wrote: “The experience was mind-blowing. Our LUXTURNA™ arrived and

we waited for it to be mixed. It felt like an eternity waiting. Mom (Sarah’s mother), Chad (Sarah’s fiancée) and I fasted with Creed.

“The team was amazing. They were so good with Creed and I, explaining everything and allowing me to hold him as we went back and (allowing us to) stand next to him as he went to sleep. It was so hard to leave. Yet I felt this sense of comfort knowing they truly had a love for Creed.”

Christian Guardino underwent experimental eye surgery five years ago with a revolutionary genetic treatment called LUXTURNA™, forever changing his life by restoring his vision that was lost due to Leber congenital amaurosis-RPE65.

On the heels of government approval of this extraordinary drug, the 18-year-old from Long Island recently had the opportunity to thank Spark Therapeutics, makers of this transformative treatment.

LUXTURNA™ is the first gene therapy for people with Leber congenital amaurosis (LCA), a rare inherited retinal disease (IRD), with an RPE65 gene mutation. 

The senior from Patchogue-Medford High School recounted his experience of receiving the drug during clinical trials and thanked Spark for their incredible, life-changing work that the Food and Drug Administration approved in December 2017.

Christian’s 2013 surgery involved injecting a human-engineered virus containing copies of a normal gene so that the cells could express a protein needed by the retina to convert light into vision-enabling signals sent to the brain. LUXTURNA™ also is the first treatment of its kind in the United States for any inherited disease.

Before surgery, Christian had difficulty seeing even in very bright light; after surgery, the teen-ager, who also is an accomplished singer, experienced something astonishing as he stalled offstage, preoccupied with the night sky before performing outdoors at Long Island’s Adventureland.

“My eyes were glued to the sky and I was looking at the moon for the first time,” Christian said. “That was pretty cool.”

During his meeting with Spark, Christian also sang three songs.

He offered a true treat, singing a very bluesy version of “Who’s Loving You” by the Jackson 5, the same song he performed for his audition a year ago on “America’s Got Talent,” where host Howie Mandel hit the “Golden Buzzer” button, speeding him forward to live competition.

During that appearance, Christian answered Simon Cowell’s introductory questions with the tentativeness of any 16-year-old on stage before a packed house and millions of television viewers. Seconds before the audition, the camera flashed to audience members in hold-your-breath anticipation. When the music began, Christian brought the microphone to his mouth and belted out a soulful, strong, self-confident performance, belying his youth and bringing the audience to its feet.

Christian, whose musical heart is in soul and the Motown sound, recently said: “There’s just so much truth and meaning in soul and Motown. To have that kind of soul, you have to be really down in life.”

At the meeting with Spark, Christian also sang “Rise Up” by Andra Day and “Don’t Stop Believing” by Journey.

From that meeting, Christian, his mom, Beth, dad, Nino, and younger brother, Nicholas, traveled to Orlando, Fla., where he was one of 10 national champion ambassadors – patients who triumphed over great odds – for the Children’s Miracle Network Hospitals (CMN Hospitals), a national organization raising funds and awareness for 170 children’s hospitals.

He represented Children’s Hospital of Philadelphia (CHOP), as their national champion, at the invitation of LUXTURNA™ developers, Drs. Jean Bennett and Albert Maguire.

After performing there, Hunter Hayes, a Grammy-nominated singer/songwriter, surprised Christian by telling him he was a big fan and inviting him to a future studio session.

The hunt for a genetic diagnosis

Christian’s mother, Beth, noticed that his eyes did not track when was about 3 months old and that he did not make eye contact, rather gravitating to light sources. Doctors suspected some sort of eye disease, including LCA.

His family noticed something else different before he was even 6 months old, when a visual therapist worked with Christian to track the song “Twinkle, twinkle, little star” on video.

“All of a sudden, in his bouncy seat,” Beth said, “He starts humming, ‘Twinkle, twinkle, little star, how I wonder what you are…’ ”

“Is that normal?” she asked the therapist, who looked at her and said, “Noooo!”

He would repeat everything he heard, singing scales and la-la-la-la-la-la-la-la all over the house.

“His musical ability, even as an infant and a toddler, was just off the charts,” Beth said. “I knew it was really something different.”

After having “every test under the sun,” doctors diagnosed Christian with LCA at 9 months old.

“At the time, so little was known about LCA. They didn’t give us much information.”

Doctors told her then that his vision would be stable or slightly improved, which turned out not to be true.

A pediatrician then referred Christian to a geneticist, to no avail.

“That’s one thing that actually surprises me now. Even back in 2000, they were not able to identify his gene.

“There was nothing we could do. We enrolled him in early intervention and had to accept the fact that he was visually impaired. We just did the best with what we had.”

When he was about 10 or 11, Christian started missing things, even in bright light, and when he didn’t recognize a friend at a church barbeque, Beth knew something was not OK.

She found information online and signed up for a family conference in Philadelphia sponsored by the Foundation for Retina Research, which has since melded into the Foundation Fighting Blindness (FFB). 

“We found out during a presentation that he was going to go completely blind,” Beth said. “Here we were, sitting in a roomful of acquaintances, that was kind of hard to hear.  

“It was really, really overwhelming, and I literally had to fight not running out of that room because I was really so completely…,” she paused saying through tears, “It’s emotional.”

Joining the clinical trial

Christian was genetically tested at that summer 2012 conference and received results in March 2013. Dr.

Bennett also tested the sample in her lab and was 90 percent sure he had RPE65. 

“We agreed to be part of the research,” Beth said. “Whatever we can do to help get things further along.”

Three months later, Christian underwent surgery.

“The first thing was really when I woke up, I was in a very, very dark room with one little lamp. ‘Dominique, is that you?’ ” Christian asked, referring to Dominque Cross, a CHOP research coordinator sitting in the room.

“I didn’t even know what to think because I’ve never really seen in a dark room. It was hard to get used to because I was used to what I saw before.”

His eyes were treated a week apart.

Beth said, “My husband and I were sitting in the room.” The doctor took off the patch and “his head turned in our direction. ‘Mom, Pop, is that you sitting there?’ ”

The whole room erupted.

Returning to school as an eighth-grader, Christian said, “It was kind of crazy because I could walk down the hall and see someone waving to me, instead of being antisocial. I wasn’t actually antisocial (before) but I seemed antisocial. Now I could see who I was talking to. It was pretty awesome.”

Shortly after surgery, he began performing with Idolmaker USA, a local talent-show company, and then went on to win Amateur Night at the Apollo Theater, marking his entrance into the real world of singing.

Christian’s now a senior and even as he talked, he couldn’t believe he’s so close to graduating.

“I graduate in June and that’s in, like, three months. It’s really just hitting me now.”

But it’s not like Christian doesn’t have plans.

“I just want to follow my career, singing, get in the studio and put out some of my own stuff.”

He recently worked with Sacha Skarbek, a British songwriter and record producer who has written songs for James Blunt and Miley Cyrus and worked with Adele, Lana Del Ray, Tears for Fears and others.

The songwriter chose one of his songs for Christian to record and then donated it to the Vision of Children Foundation, which is making a documentary called “Vision Hero.”

The name of the song and its lyrics are top secret for now, but Christian did say he recorded the song last month in Los Angeles.

“Andddddd we’re off 💓,” Sarah St. Pierre Pettit wrote Saturday afternoon as she, her son, Creed, and her fiancée, Chad, piled into their SUV. They’re headed south for Miami’s Bascom Palmer Eye Institute where doctors await Creed’s arrival for ground-breaking, gene-therapy eye surgery using LUXTURNA™ to correct his LCA RPE65 gene mutation.

LUXTURNA™, developed by Spark Therapeutics, is a revolutionary genetic treatment in which a human-engineered virus containing copies of a normal gene is injected under the retina. Creed’s surgery will be among the first since the Food and Drug Administration in December approved LUXTURNA™, which also is the first-ever genetic treatment in the United States for any inherited disease.

Emotions have been running high for Creed’s mom, Sarah of Mount Dora, Fla., and they kicked into even higher gear Friday. That’s when Sarah’s mom picked up Creed’s dog, Annie, to stay with her while Creed and company readied for Saturday’s five-hour ride to Miami.

She said it “hit hard,” when her mom picked up Annie, described as a pound dog, not a service dog.

“I lost it,” she wrote in an email. “This is it. 9 years of fighting and it’s finally here. So crazy.”

Sarah’s mom, Mary, will leave the pooch with family and friends and meet up with the family in Miami on Tuesday.

Today, Creed is undergoing pre-op tests and could learn when doctors will perform the surgery. The original dates were Wednesday for Creed’s first eye, and a week later, March 28, for his second. Sarah said Creed is sick of waiting, but he is excited for the surgery.

This morning, Creed asked Sarah’s fiancée, Chad, to bring all of Creed’s canes after the second eye surgery so he can throw them in the bay.

Good luck, buddy!!

Read Creed’s story

Ready, Set, Scheduled. Florida Boy Will Receive Gene Therapy Treatment to Reverse Vision Loss

Curing Blindness: The Road To Treatment With LUXTURNA™

This is the second in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for RPE65 genetic mutations and as the first-ever genetic therapy in the United States for an inherited disease.

Sarah St. Pierre Pettit and her son, Creed, made the six-hour trip to a Miami eye hospital many times in the past, but on their most recent visit, driving back home was different.

“We usually have hope when we leave from Miami,” said Sarah, referring to hope for a treatment for her 9-year-old son’s vision loss due to Leber congenital amaurosis.

“This time was the first time I’ve ever come back home from Miami with a set date and hope.”

That date would be March 21st for genetic therapy surgery at Bascom Palmer Eye Institute  using LUXTURNA™, a revolutionary treatment to correct the RPE65 gene mutation in one of Creed’s eyes.

The next important date will be March 28th for the same surgery in Creed’s other eye.

“I am on CLOUD 9!!!” Sarah emailed Monday, Feb. 19, hours after meeting with a team of doctors at Bascom Palmer.

The news comes after Sarah’s insurance provider, working with the developer of LUXTURNA™, Spark Therapeutics, gave the go-ahead to schedule surgery. The company established Spark Therapeutics Generation Patient Services™ to support commercially insured patients and their caregivers in the United States and help them navigate the insurance process, according to a Spark Therapeutics’ news release.

Soon after doctors diagnosed her son at the age of 3, Sarah began raising money, totaling about $100,000 that has gone toward research into finding a treatment for LCA-RPE65.

Creed, Sarah, Sarah’s friend, Chad, and Sarah’s mom, Mary, drove from Mount Dora to Miami on Sunday, Feb. 18; on Monday, a team of nurses and doctors met them and talked about what to expect for the surgery.

Meeting the gene therapy team

Dr. Audina M. Berracol will be doing Creed’s surgery. She is a Professor of Clinical Ophthalmology, specializing in areas including vitreoretinal diseases and surgery.

“She was amazing,” Sarah said. “We just had a chance to really meet her.”

Dr. Berracol answered Sarah’s questions and put her mind at ease. Creed has a sensory issue with anything that is “sticky” and had difficulty with patches on his eyes. To help overcome this, the doctor sent them home with a roll of tape used for patches.

“It’s to get him used to it because he’s not going to be able to pull it off,” Sarah said.

Creed later asked his mom how many minutes are in 24 hours. She Googled it and found 1,440 minutes.

He wanted to know because that’s how long he’s going to have to wear an eye patch after surgery.

“So that’s fine,” she said. “We’ll count down from there.”

Sarah also wondered what happens after surgery if Creed cries. It’s OK to cry, as long as he doesn’t rub his eyes. A small blister, called a bleb, forms after the surgery, creating vision as if looking through a fish-eye lens.

“Once it pops (naturally), you know you’re in the clear” the doctors said.  

And Sarah asked about administering fluids intravenously, because Creed pulled out an IV after he woke up from having his tonsils out.

The doctor assured her that the IV will be placed so it can’t be pulled out.

She also learned the surgery usually lasts about an hour, much less time than she had imagined.

‘Excitement and worry’

Back home, Sarah reflected that everything was just so overwhelming.

“It was a long trip home but worth every second of it.”

Creed said the trip was “a one-night stay and we went to Bascom Palmer Eye Institute.”

As for the surgery, Creed said, “I’m feeling a little nervous.”

So is mom. Two days after returning from Miami, new fears crept in as she thought about all the “what ifs” that could happen during surgery.

“I can say other LCA moms are feeling this same emotion,” she said. “Waves of excitement and worry all flow through.”

Her feelings are smoothing out as she and Creed get back to their usual routine for the next several weeks before driving back to Miami for the surgery.

“We’re just going to plug along with school, and Creed’s school has offered to meet with me as to how we’re going to keep him on track while we’re there.”

Hannah Reif, 7, will be treated with LUXTURNA™ at Children’s Hospital of Philadelphia (CHOP) to cure her blindness caused by LCA-RPE65.

Amy Reif still can’t hold back tears when she recounts first hearing that a ground-breaking genetic-therapy treatment targeting her daughter’s LCA-RPE65 gene officially received approval.

Amy knew in October that the Food and Drug Administration was holding a meeting about LUXTURNA™, a gene therapy developed by Spark Therapeutics, and felt hopeful for a cure for her 7-year-old, Hannah’s vision loss.

“We didn’t actually realize there was a vote on it at the end, and it received unanimous support,” she recalled. She wondered, “Is this it?”

In October the FDA’s Cellular, Tissue and Gene Therapies Committee heard testimony, including that of Laura Manfre, co-founder and board chair of Sofia Sees Hope. 

The committee voted unanimously to recommend approval of the breakthrough drug.

“Then we realized it was a good next step in the process,” Amy said. “Then when the FDA approval actually happened in December – I can’t even talk about it without crying – we just had so much hope for seven years and all of a sudden all of our dreams were realized,” she said through her tears. “And it was just incredible.”

Amy, a 41-year-old mother of three living in Maple Glen, PA, with her husband, Christopher, still marvels at the idea that the genetic research focused on the same gene mutation as her daughter’s.

“What were the chances that was going to be her gene? It was just amazing.”

The first-grader will be treated with LUXTURNA™ at Children’s Hospital of Philadelphia (CHOP), where Jean Bennett, M.D., Ph.D., and Albert M. Maguire, M.D., researched and conducted studies, working with mice and dogs, resulting in this extraordinary gene therapy. LUXTURNA™ is the first genetic therapy treatment for LCA-RPE65, and it is the first treatment in the United States for any inherited disease.

Hannah and her family are serendipitously located 45 minutes from CHOP. Hannah has been seen by Dr. Maguire, the principal investigator for the clinical trials that led to the approval of LUXTURNA™ .

“We didn’t have to search far and wide,” Amy said.

Treatment likely this summer

The family met Feb. 12 with Bart P. Leroy, M.D., Ph.D., for their first appointment at CHOP to get ready for surgery, which probably will happen this summer. Dr. Leroy is director of Ophthalmic Genetics and Retinal Degenerations clinics in the Division of Ophthalmology and Center for Cellular and Molecular Therapeutics.

They discussed the surgery and took more photographs of Hannah’s eyes. They’re waiting to be scheduled for their next appointment.

Doctors told Amy that Hannah has one of the milder forms of LCA. She has night blindness that extends to any dimly-lit area any time of the day. She also has poor peripheral vision.  

An ophthalmologist who saw Hannah at 2 months old suggested LCA as the possible cause of her visual impairment and sent her to CHOP for an electroretinogram (ERG). 

At age 3 at CHOP, Hannah attempted to do simple tasks as part of getting into clinical trials, but she was too young, and the testing was difficult and upsetting. Two years later when they went back for their next ophthalmology appointment at CHOP, the trials were winding down.

“Had we had the opportunity to be in the trial, we would have, but it just didn’t work out.”

Over the last seven years, the family has raised more than $20,000 for Foundation Fighting Blindness through VisionWalk.

Spark’s patient assistance program

For help with the insurance process for Hannah’s surgery, Amy called Spark Therapeutics in January on the recommendation of other moms of children with LCA-RPE65. She said Spark is working with her insurance company on the $850,000 cost to treat both of Hannah’s eyes. The company has established Spark Therapeutics Generation Patient Services™ to support commercially insured patients and caregivers through the treatment experience and help them navigate insurance issues.

Amid all this preparation, Amy said she doesn’t know that Hannah has fully grasped what is going to happen.

“She knows that she’s going to see better, but I’m not sure at age 7 if she knows what that means. She knows that she can’t see stars and rainbows like other people can. At this point, we haven’t talked a lot about it because summer is several months away.

“She is very scared.”

Amy said her daughter had surgery for a lazy eye and still remembers having a hard time coming out of anesthesia and her eyes being crusty.

“She’s excited about the surgery, but she’s afraid she’s going to have crusty eyes. It doesn’t seem like a big deal to us, but for her it is.”

For now, though, Hannah’s enjoying life like any other kid. She attends regular first-grade classes and loves to play with her friends and with Barbies. She especially loves riding her scooter.

“The principal will be outside to meet the kids in the morning and he just sees her flying down the sidewalk on her scooter, and they know my child is visually impaired and they just can’t believe it.”