“The treatment is sitting in the fridge”

A rare, fatal disease called SPG50 affects fewer than 100 people in the world – and one of them is Naomi Lockard, a 3-year-old in Colorado.

An experimental gene therapy has shown promise in halting the progression of the disease – but it is too expensive for most families to afford.

Rebekah Lockard, the girl’s mother, is on a mission to raise the funds needed to save her daughter’s life.

Spastic paraplegia 50 (SPG50) is a neurological disorder that affects a child’s development, gradually leading to cognitive impairment, muscle weakness, speech impairment and paralysis, according to the National Organization for Rare Disorders.

Most people with the disease will die by the time they reach their 20s.

When Naomi Lockard was born in 2017, her parents immediately noticed some developmental delays.

At about six months, when she still “wasn’t really moving,” Lockard said, they started the child in physical therapy, which didn’t help.

Eventually, an MRI and a full panel of genetic testing revealed the shocking diagnosis of SPG50.

At the time, Lockard was just a month away from giving birth to her second child – which added another element of fear as the condition is genetic.

“My husband and I each have a healthy copy of this gene, but we each have a mutated copy,” she told Fox News Digital in a phone interview.

“Naomi received both mutated copies and there was a 25% chance that Jack (the second child) would also receive both mutated copies.”

“It was a lot of panic at first, a lot of tears, because it’s a terrible condition,” Lockard said.

A few weeks later, after Lockard was born, another round of genetic testing revealed the family’s worst fears: Baby Jack also had SPG50.

“Children with SPG50 may experience early developmental delays, muscle weakness and spasticity, but they continue to try and adapt,” told Fox News Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor to Drugwatch. Digital.

“Over time, these symptoms can worsen, making it difficult for affected individuals to walk and perform daily activities,” added Penney, who was not involved in the Lockard children’s care.

“The prognosis varies from person to person, but it is generally a progressive condition, meaning that symptoms can become more severe over time.”

A glimmer of hope

There is currently no FDA-approved treatment for SPG50, but the Lockards found hope when they enrolled in a clinical trial for an experimental gene therapy started by another parent, Terry Pirovolakis.

“It’s kind of like a gene transplant,” Lockard told Fox News Digital. “It works as a treatment, or maybe even a cure.”

The procedure, which involves injecting cerebral spinal fluid through a lumbar puncture, comes with risks.

“But it’s worth the risk because it’s the only thing that can help prevent the condition from getting worse,” Lockard said.

Her newly diagnosed baby – who was just shy of six months old – received the gene therapy treatment first, as there was a better chance of stopping the disease at a younger age.

He was the youngest child ever to receive intrathecal (spinal) gene therapy treatment.

“Jack has flourished ever since,” Lockard said. “He’s sitting up independently, banging toys together, drinking from a straw cup and working hard to crawl.”

She added, “Doctors and therapists share the same sentiment: treatment works!”

Other children who participated in the trial have experienced similar results, Lockard said.

“They have all shown that their disease has stopped progressing and their cognition has improved,” she said.

Lockard’s daughter, Naomi, has yet to receive therapy.

“We can’t help but compare Jack and Naomi and we see how he’s meeting these milestones. He’s caught up with her in development and will probably get over it in the next few months, even though they’re two years apart. ,” Lockard said.

“Naomi just turned 3 and learned to crawl just six months ago. She can’t walk or talk and her cognitive level is probably that of a 9-month-old.”

Although her daughter will likely always have the deficiency, since she missed the “critical window” of development, gene therapy may still stop further progression.

“If they can treat her before she gets the paralysis, the hope is that she will never develop it,” Lockard said.

If her daughter does not receive therapy, she will likely experience the typical trajectory of the disease, Lockard said.

“Children develop paralysis in elementary school, become quadriplegic in high school and die in their 20s—never learn to speak and lose all ability to move in their short lives.”

The problem is that the clinical trial has run out of funding.

Cost and complexity

Dr. Penney noted that treatment for SPG50 is challenging and expensive to develop — “mainly because it’s a sporadic disease.”

The doctor told Fox News Digital, “Pharmaceutical companies often prioritize conditions that affect larger populations, with a more significant potential to offset research and development costs.”

“The market is much smaller for rare diseases like SPG50, making it less financially viable for companies to invest in developing a treatment.”

Developing treatments for genetic disorders requires significant research, time and specialized technology, Penney added, all of which add cost and complexity.

In the absence of a cure, most families can only manage symptoms through physical therapy, occupational therapy, speech therapy and medications to help control spasticity or seizures, Penney said.

“The management of SPG50 requires a comprehensive, multidisciplinary approach to address its various symptoms and challenges,” Penney said.

Fighting to keep hope alive

The experimental trial that potentially saved Jack Lockard’s life was started by another parent, Terry Pirovolakis.

Pirovolakis, based in Canada, discovered in 2017 that his youngest son, Michael, had SPG50.

“They told us he would be paralyzed from the waist down by age 10 and a quadriplegic by age 20,” Pirovolakis told Fox News Digital in an interview.

“They said he would need support for the rest of his life.”

Pirovolakis refused to accept this. He immediately began doing research and traveling the world to gene therapy conferences, talking to medical experts about his son’s disease.

Eventually, he liquidated his life savings, refinanced his home and paid a team of scientists at the University of Texas Southwestern Medical Center to create a “proof of concept” for a genetic treatment for his son.

After seeing positive results in mouse studies, as well as in his son’s and several other children’s cells with SPG50, Pirovolakis partnered with a small company in Spain to produce the drug.

In December 2021, Health Canada gave Pirovolakis permission to move forward with gene therapy for his son.

“After that, we had three more doses and decided we had to help the other kids,” Pirovolakis said.

“I could not let these children die. I had to do something.”

It opened a Phase 2 study in the US, in which three more children with SPG50 were treated – including Jack Lockard.

“I tried to pitch the therapy to pharmaceutical companies, but no one wanted to do it, so I quit my job and started a nonprofit, CureSPG50, in California,” Pirovolakis said.

“Now we have five employees and 20 consultants and our goal is to save children with five diseases, almost all of them fatal.”

Next, Pirovolakis will begin a Phase 3 study at the National Institutes of Health for SPG50, with future trials planned for other diseases.

The problem is that without the support of big drug companies, there is no funding available to dose the therapies to the children who need them.

“They have eight doses that were manufactured in Spain and shipped to the US,” Lockard said.

“It’s here, just literally sitting in a freezer, ready to go. The doctors are ready. There’s just not enough money to make it happen.”

It costs about $1 million to make the drug for each child, Pirovolakis said, and about another $300,000 to treat each U.S. patient at the hospital.

While Pirovolakis and his team are actively working to secure grants and investors, it is primarily up to the parents to raise funds for the next phase of the clinical trial.

So far, Lockard has raised $50,000 through a GoFundMe fundraiser, but that’s just a fraction of what’s needed to treat her daughter.

“Right now, there are four families in the US who are trying really hard to raise the money that is needed because time is of the essence,” he said.

“We want to make sure the trial goes ahead and these kids are treated.”

The ultimate goal

Looking ahead to the Phase 3 clinical trial at the NIH, Pirovolakis’ goal is to treat eight children with SPG50.

“If we can show that it works in all eight children — and we can prove to the FDA that it’s making a difference — then the drug will be approved and any child can take it,” he said.

Ideally, once the drug is approved — which could take three to five years, Pirovolakis estimates — SPG50 will be added to hospitals’ newborn screening programs, and every child with the disease will be able to receive the therapy.

“I get calls at least five times a week from families all over the world, asking me to help save their children,” he said.

“It’s hard” there’s only so much you can do, and unfortunately, that’s a money problem. It’s just heartbreaking.”