Fewer than 100 people in the world are affected by a rare, fatal disease called SPG50, and one of them is 3-year-old Naomi Lockard from Colorado.
Experimental gene therapies have shown promise in halting the disease's progression, but are too expensive for most families.
The girl's mother, Rebecca Lockard, is working to raise the funds needed to save her daughter's life.
According to the National Organization for Rare Disorders, spastic paraplegia 50 (SPG50) is a neurological disorder that affects a child's development, gradually leading to cognitive impairment, muscle weakness, speech problems and paralysis.
Most people with the disease die before they reach their 20s.
When Naomi Lockard was born in 2017, her parents immediately noticed some developmental delays.
By about six months old, the baby still “wasn't moving much,” so they started him on physical therapy, but it didn't help, Lockard said.
Finally, an MRI and a full genetic testing panel revealed the shocking diagnosis: SPG50.
At the time, Lockard was just a month away from giving birth to her second child, and the fact that the disease is hereditary made it even more frightening.
“My husband and I each have one healthy copy of the gene, but we also each have one mutated copy,” she told Fox News Digital in a phone interview.
“Naomi inherited both copies of the mutation and there was a 25% chance that Jack (the second baby) would also inherit both copies of the mutation.”
“At first I panicked and I couldn't stop crying because it was so bad,” Lockard said.
A few weeks later, after Lockard gave birth, further genetic testing revealed the family's greatest fear: Baby Jack also had SPG50.
“Children with SPG50 may experience early developmental delays, muscle weakness and spasticity, but they continue to try and adapt,” Dr. Eve Elizabeth Penny, an epidemiologist with the Texas Department of State Health Services and Drug Watch medical contributor, told Fox News Digital.
“Over time, these symptoms can worsen and patients can have difficulty walking and carrying out everyday activities,” added Penny, who is not involved in the Lockards' children's care.
“The prognosis varies from person to person, but in general it is a progressive disease and symptoms may worsen over time.”
A ray of hope
There is currently no FDA-approved treatment for SPG50, but the Lockards found hope by participating in an experimental gene therapy clinical trial started by another parent, Terry Pirovolakis.
“It's like a gene transfer,” Lockard told Fox News Digital. “It acts like a treatment or a cure.”
This procedure, which involves injecting cerebrospinal fluid via a spinal tap, carries risks.
“But it's the only way to prevent the condition from getting worse, so it's worth the risk,” Lockard said.
Newly diagnosed babies under six months of age were given the gene therapy first because there is a better chance of stopping the disease at a younger age.
He was the youngest child to receive intraspinal gene therapy.
“Since then, Jack has made great strides,” Lockard said. “He's learned to sit up on his own, bang toys around, drink from a straw cup and is working hard on crawling.”
She adds: “Doctors and therapists are on the same page: 'Treatment works!'”
Lockard said other children in the trial experienced similar results.
“We saw that all of the patients' disease progression was halted and their cognitive abilities improved,” she said.
Lockard's daughter, Naomi, has yet to receive treatment.
“It's hard not to compare Jack to Naomi and see how Jack is meeting these milestones. He's catching up to Naomi developmentally and will probably overtake her within the next few months, even though they're two years apart,” Lockard said.
“Naomi just turned three and only learned to crawl around six months ago. She can't walk or talk and her cognitive level is probably that of a nine-month-old.”
Her daughter missed a “critical window” of development and will likely remain disabled for the rest of her life, but gene therapy can halt further progression.
“If we can treat it before paralysis occurs, the hope is that paralysis won't occur,” Lockard said.
If her daughter did not receive the treatment, she would likely follow the typical course of the disease, Lockard said.
“Children become paralyzed in elementary school, become quadriplegics in high school and die in their 20s. They lose the ability to speak or move at all during their short lives.”
The problem is that funding for clinical trials has dried up.
Cost and Complexity
Developing a treatment for SPG50 will be difficult and expensive, Dr. Penny said, “because it's primarily a sporadic disease.”
“Pharmaceutical companies often prioritise diseases that affect larger populations where they have a better chance of recouping their R&D costs,” the doctor told Fox News Digital.
“The market for a rare disease like SPG50 is so small that it is less economically feasible for companies to invest in developing a treatment.”
Penny added that developing treatments for genetic diseases requires a lot of research, time and expertise, all of which adds cost and complexity.
With no cure, most families have no choice but to manage symptoms with physical therapy, occupational therapy, speech therapy and medication to control spasms and seizures, Penny said.
“Managing SPG50 requires a comprehensive, multidisciplinary approach to address a range of symptoms and challenges,” Penney said.
Fighting to keep hope alive
The experimental effort that could have saved Jack Lockard's life was initiated by another parent, Terry Pirovolakis.
Pirovolakis, who lives in Canada, learned her youngest son, Michael, was infected with SPG50 in 2017.
“Doctors told me that by the time I was 10 I would be paralyzed from the waist down and by the time I was 20 I would be a quadriplegic,” Pilovolakis said in an interview with Fox News Digital.
“We were told he would need support for the rest of his life.”
Mr. Pirovolakis refused to accept that. He immediately began researching, traveling around the world to attend conferences on gene therapy and discuss his son's illness with medical professionals.
In the end, he liquidated his life's savings, refinanced his house, and paid a team of scientists at the University of Texas Southwestern Medical Center to create a “proof of concept” for a gene therapy for his son.
Following positive results in studies in mice and in cells from his son and several other children with SPG50, Pirovolakis partnered with a small Spanish company to manufacture the drug.
In December 2021, Health Canada gave Pirovolakis the go-ahead to move forward with gene therapy for his son.
“After that we got three more doses and decided we had to help other children,” Pilovolakis said.
“We can't let these kids die. We have to do something.”
He has begun phase 2 trials in the US, with three more children with SPG50 being treated, including Jack Lockard.
“I tried to get the treatment out to pharmaceutical companies, but no one wanted to make it, so I quit my job and started a nonprofit in California called CureSPG50,” Pilovolakis said.
“We now have five employees and 20 consultants, and our goal is to help children with five diseases, almost all of which are fatal.”
Next, Pirovolakis will begin a Phase 3 trial of SPG50 at the National Institutes of Health, with plans to test it for other diseases in the future.
The problem is, without the backing of big pharma, there is no funding to get the treatment to kids who need it.
“There are eight doses of vaccine that were produced in Spain and airlifted to the United States,” Lockard said.
“It's literally in the fridge, ready to go, and our doctors are ready to go. We just don't have the funding to make it happen.”
It costs about $1 million to make enough medicine for one child, and another $300,000 to treat one patient in a U.S. hospital, Pirovolakis said.
While Pilovolakis and his team are actively working to secure grants and investors, fundraising for the next phase of clinical trials is primarily the responsibility of the parents.
So far, Lockard has raised $50,000 through a GoFundMe campaign, but that's only a fraction of what's needed for her daughter's treatment.
“Right now there are four families in the United States who are working hard to raise the funds they need because time is of the essence,” he said.
“We want to make sure this trial goes ahead and these kids have access to treatment.”
The End Goal
Looking ahead to the Phase 3 clinical trial at NIH, Pirovolakis' goal is to treat eight children with SPG50.
“If we can prove that it works for all eight children, and if we can prove that it works to the FDA, the drug will be approved and all children will have access to it,” he said.
Ideally, once the drug is approved (which Pirovolakis estimates could take three to five years), SPG50 would be added to hospitals' newborn screening programs so that all children with the disease could be treated.
“I get at least five calls a week from families all over the world asking for help in saving their children,” he said.
“It's tough. There's only so much you can do and unfortunately it's about money. It's really heartbreaking.”
