When Paxton Purdy turned 7, he was diagnosed with a genetic disorder, CLCN6, which causes progressive neurodegeneration. The condition, which causes severe developmental issues affecting everything from speech to motor functions, was only just discovered 20 years ago. Now, his family is fighting to fund a first-ever clinical trial to treat the effects of the mutation.

On June 1, the Muligan Family Fun Center will host the Purdy family’s Cure CLCN6 Fundraiser from 1 to 5 p.m. For every purchase, 10 percent will go to the family’s nonprofit, Cure CLCN6, created to raise funds and drive further research. Attendees must bring a digital or printed copy of this flyer to any register to ensure the purchase goes to Paxton’s cause.

For the past year, Paul and Kristin Purdy have fought to save their son’s life — and to bring hope to other families facing the same devastating diagnosis.

Last year, Paxton’s father, Paul Purdy, began researching gene therapies when he discovered work at the University of Massachusetts Horae Gene Therapy Center. Scientists agreed to study Paxton’s specific mutation using a specialized mouse model funded through the National Institute of Health.
The goal? To design a first-of-its-kind gene therapy vector to help halt or reverse the effects of Paxton’s condition.

Developing the treatment, however, comes with a daunting price tag — an estimated $1.5 million. To date, the family’s GoFundMe campaign has raised $82,091.

Kristin Purdy, Paxton’s mother, is also competing in a competition called The Super Mom to raise money for Paxton. If she wins, she’ll receive $20,000, which will go toward Paxton’s gene therapy, Paul told Patch on Friday, adding that she is currently in second place in the quarterfinals.

Aside from a large contribution to Paxton’s cure fund, the winnings also include an appearance in Woman’s World magazine and a weekend getaway in Napa.

Though no cure for CLCN6 exists — and none has ever been developed—Paul and Kristin are determined to change that.

A 2020 study on children with a rare mutation of the CLCN6 gene included just four patients. Two of them, both young children, have since died. With no existing treatment or cure, the condition remains largely unknown. Today, 8-year-old Paxton — who was initially diagnosed with autism — is one of only 30 known cases in the world.

Since he was a toddler, Paxton has undergone speech, occupational, and physical therapy for autism. His sister, Aria, is also on the spectrum, so Paul and Kristin believed they were familiar with the kind of care Paxton would need.

But around age 5, everything changed. He began experiencing severe seizures that escalated over time, eventually requiring hospitalization in early 2023 despite multiple medications. Later on, genetic testing revealed a rare mutation on his CLCN6 gene — likely the root cause of both his seizures and a broader neurodegenerative decline.

Paxton also struggles with motor planning, making simple tasks like climbing stairs, holding a cup, or feeding himself a challenge.

His anti-seizure medications often leave him groggy and, paradoxically, more prone to seizures when he falls asleep. In school, Paxton attends special education classes and needs near-constant support — from using the bathroom to transitioning between activities.

Still, his parents say Paxton is a joyful child who lights up around other kids, even if he can’t always join in the way he wants to.

“He just likes being around people,” Paul told Patch earlier this year.

Paul is determined to spare other families the same hopelessness he felt when Paxton was first diagnosed. That’s why the family’s nonprofit aims not only to help Paxton but also to provide a resource for others who may discover they, too, have this rare mutation.

“This gene therapy, it’s going to be a first in the world,” Purdy said. “This little boy right here will be the first in the world to undergo this gene therapy. He’ll be in the history books.”

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Research published in 2020 on children with a rare mutation of their CLCN6 gene included four patients. Two of those patients, both young children, have died. There’s currently no treatment or cure. Today, Paxton, who was previously diagnosed with autism, is just one of 30 known cases.

“We’ll follow up with you in two years,” a genetics counselor told them.

“Your whole world comes crashing down. You’re in shock. You start going through the stages of grief — everything except for acceptance,” Paxton’s father, Paul Purdy told Patch. “You don’t know what the future holds for your child. You don’t know how much time they have.”

Despite this devastating news, Purdy and his wife Kristin refused to give up. After being told there was no cure, they set out to fund a first-ever clinical trial to treat the effects of the mutation.

Since he was a toddler, Paxton, now 8, has been receiving therapy for autism — including speech, occupational and physical therapy. His sister, Aria, also has a form of autism, so the Purdy’s felt they had a handle on the type of care Paxton would need. But around age 5, Paxton’s condition took a dramatic turn when he began suffering severe seizures that intensified over time. Even with multiple medications, Paxton was hospitalized in early 2023. Soon after, further testing revealed that his mutation on the CLCN6 gene was likely driving both his seizures and a broader neurodegenerative process.

Paxton’s challenges extend far beyond his seizure disorder. He has significant difficulty with motor planning; everyday tasks like climbing stairs, holding a cup or feeding himself require assistance. Anti-seizure medications often leave him groggy during the day and can trigger more seizures whenever he dozes off. At school, the 8-year-old attends special education classes, but he needs support in nearly every aspect of daily life — from using the bathroom to transitioning between activities.

Still, Paxton’s parents describe him as a happy child who lights up around other kids, even if his ability to communicate and play with them is limited.

“He just likes being around people,” Purdy said.

Last year, Purdy began researching gene therapies when he discovered work at the University of Massachusetts Horae Gene Therapy Center. Scientists agreed to study Paxton’s specific mutation using a specialized mouse model funded through the National Institute of Health. The goal? To design a first-of-its-kind gene therapy vector to help halt or reverse the effects of Paxton’s condition.

Developing the treatment, however, comes with a daunting price tag — an estimated $1.5 million. Purdy and his wife have formed a nonprofit — Cure CLCN6 — to raise funds and drive further research. To date, the family’s GoFundMe campaign has raised $60,828.

The nonprofit is hosting two fundraisers, including one on Friday, Feb. 1, at Mountain Mike’s Pizza in Temecula. The restaurant donating 40% of each purchase when customers mention “Cure CLCN6, Inc.” for dine-in, takeout, or direct delivery orders (third-party apps are not included).

Cure CLCN6, Inc. is also running a shoe drive through March 27 in collaboration with Funds2Orgs. New and gently used shoes will be collected and distributed to micro-entrepreneurs in developing countries. The Purdys’ nonprofit can earn up to 50 cents per pound of donated footwear. Those interested in hosting a shoe drop-off box or scheduling a shoe drive can email contactus@cureclcn6.org.

Despite the immense challenges, Paul Purdy says the new effort has given their family something they had lost: hope.

“The good news is there is a plan in place to develop this,” Purdy said. “The bad news is that it takes a while to fully develop…probably about three years.”

Since going public, the Purdys were contacted by families in Alabama and Mexico who have children who also have the ultra-rare neurodegenerative mutation.

Like the Purdys, those families also reported being brushed off by medical professionals and told, “We’ll follow up with you in a couple of years.”

“That’s not a conversation any parent ever wants to have and frankly, never should have,” Purdy said. “Because now we know that the ability, the technology, the knowledge to create effective treatments…does exist — but unfortunately, families have to be the ones that fund it.”

In the meantime, Paul and Kristin Purdy’s day-to-day life revolves around therapy appointments, special education support, medication adjustments, and the ever-present worry of when the next seizure might strike.

While Paxton’s future remains uncertain, Purdy is determined to spare other families the same hopelessness he felt upon learning of his son’s diagnosis. His nonprofit aims not only to help Paxton but also to provide a resource for others who may discover they, too, have this rare mutation.

“This gene therapy, it’s going to be a first in the world,” Purdy said. “This little boy right here will be the first in the world to undergo this gene therapy. He’ll be in the history books.”

For Purdy, the motivation behind developing a first-of-its-kind therapy extends well beyond his immediate family.

“While Paxton is our son —and yes, we are doing this for him — since these other families have come forward…we do feel an additional obligation and motivation to get this done for them as well.”

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MIAMI (AP) — Dr. Alfonso Sabater pulled up two photos of Antonio Vento Carvajal’s eyes. One showed cloudy scars covering both eyeballs. The other, taken after months of gene therapy given through eyedrops, revealed no scarring on either eye.

Antonio, who’s been legally blind for much of his 14 years, can see again.

The teen was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. But his skin improved when he joined a clinical trial to test the world’s first topical gene therapy. That gave Sabater an idea: What if it could be adapted for Antonio’s eyes?

This insight not only helped Antonio, it also opened the door to similar therapies that could potentially treat millions of people with other eye diseases, including common ones.

Antonio’s mom, Yunielkys “Yuni” Carvajal, teared up thinking about what Sabater did for her son.

“He’s been there through everything,” she said in Spanish during a visit to the University of Miami Health System’s Bascom Palmer Eye Institute. “He’s not only a good doctor but such a good human being and provided us with hope. He never gave up.”

The family came to the U.S. from Cuba in 2012 on a special visa allowing Antonio to get treatment for his condition, which affects around 3,000 people worldwide. He had surgeries to remove scar tissue from his eyes, but it grew back. Antonio’s vision kept getting worse, eventually deteriorating so much that he didn’t feel safe walking around.

Sabater had no answers then, and tried to reassure the boy: “I’ll find a solution. I just need some time. I’m working on it.”

“‘Yeah, I know you’re going to do it,’” Sabater recalled Antonio saying. “That gave me the energy to continue.”

At one point, Carvajal told Sabater about the experimental gene therapy gel for Antonio’s skin lesions. He contacted drugmaker Krystal Biotech to see if it could be reformulated for the boy’s eyes.

Suma Krishnan, co-founder and president of research and development for the Pittsburgh-based company, said the idea made sense and “it didn’t hurt to try it.”

Antonio’s condition is caused by mutations in a gene that helps produce a protein called collagen 7, which holds together both skin and corneas. The treatment, called Vyjuvek, uses an inactivated herpes simplex virus to deliver working copies of that gene. The eyedrops use the same liquid as the skin version, just without the added gel.

After two years, which included testing the drug in mice, the team got “compassionate use” approval from the U.S. Food and Drug Administration and permission from university and hospital review boards. Last August, Antonio had surgery on his right eye, after which Sabater started treating him with the eyedrops.

Krishnan said they were cautious, frequently watching to see that it was safe.

Antonio’s eye recovered from the surgery, the scarring didn’t return and there was significant improvement each month, Sabater said. Doctors recently measured the vision in Antoni’s right eye at a near-perfect 20/25.

This year, Sabater began treating Antonio’s left eye, which had even more scar tissue. That one is also steadily improving, measuring close to 20/50, which Sabater said “is pretty good vision.”

Antonio comes to the eye institute for checkups almost weekly and gets the drops once a month. During visits, Antonio must wear protective clothing covering his arms, hands, legs and feet. Like other kids with the condition — who are sometimes called “butterfly children” — his skin is so fragile that even a touch can wound him.

Antonio still uses the skin gel, which was approved by the FDA in May and can also be used off-label on eyes. It doesn’t modify DNA, so it’s not a one-time treatment like many gene therapies.

Sabater, director of the Corneal Innovation Lab at the eye institute, said gene therapy eyedrops could potentially be used for other diseases by changing the gene delivered by the virus. For example, a different gene could be used to treat Fuchs’ dystrophy, which affects 18 million people in the U.S. and accounts for about half the nation’s corneal transplants.

The prospect of treating more conditions this way is “exciting,” said Dr. Aimee Payne, a dermatology professor at the University of Pennsylvania who isn’t involved in the research. The approach “delivers gene therapy that really addresses the root cause of disease.”

With his vision restored, Antonio has enjoyed a typical teen pastime he’s wanted to do for quite a while: playing video games with his friends. And he finally feels safe walking around.

Sabater said the two-year journey seeking government and hospital approvals “was worth it. Just for Antonio, it was worth it … but also because it opens the space to treat other patients in the future.”

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