Health
Mother frantic to save clinical trial that could cure her daughter: ‘The treatment is sitting in a 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 genetic therapy has shown promise in stopping the disease’s progression — but it is far 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.
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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.
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 (pictured at right and with her family at left). (Rebekah Lockard)
When Naomi Lockard was born in 2017, her parents immediately noticed some developmental delays.
By around six months, when she still “wasn’t really moving,” Lockard said, they started the baby in physical therapy, which didn’t help.
Eventually, an MRI and full genetic testing panel revealed the shocking diagnosis of SPG50.
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At the time, Lockard was just a month away from giving birth to her second child — which added another element of fear given that the condition is genetic.
“My husband and I each have one healthy copy of this gene, but we each have one mutated copy,” she told Fox News Digital in a phone interview.
“Naomi got both mutated copies, and there was a 25% chance that Jack would also get both mutated copies,” Lockard, pictured with her family, told Fox News Digital. (Rebekah Lockard)
“Naomi got both mutated copies, and there was a 25% chance that Jack (the second baby) would also get both mutated copies.”
“It was a lot of panic at first, a lot of tears, because it’s a horrible condition,” Lockard said.
A few weeks later, after Lockard gave birth, another round of genetic testing revealed the family’s worst fear: Baby Jack also had SPG50.
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“Children with SPG50 may experience early developmental delays, muscle weakness, and spasticity, but they continue to strive and adapt,” Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor for Drugwatch, told Fox News Digital.
Fewer than 100 people in the world are known to have SPG50.
“Over time, these symptoms can worsen, making it hard 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’s generally a progressive condition, meaning 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 that was started by another parent, Terry Pirovolakis.
“It’s kind of like a transplant for genes,” Lockard told Fox News Digital. “It functions like a treatment, or maybe even a cure.”
The procedure, which involves injecting cerebral spinal fluid through a lumbar puncture, does come with risks.
Naomi Lockard, left, just turned 3 years old. She has not received the gene therapy. Jack Lockard, right, was treated at 6 months old. (Rebekah Lockard)
“But it’s worth the risk, because it’s the only thing that could possibly 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 an intrathecal (spinal) gene therapy treatment.
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“Jack has thrived since then,” Lockard said. “He is sitting independently, banging toys together, drinking from a straw cup, and working really hard on crawling.”
She added, “Doctors and therapists share the same sentiment: The treatment works!”
Other children who participated in the trial have experienced similar results, Lockard said.
“They’ve all shown that their disease has stopped progressing and their cognition has improved,” she said.
“Naomi just turned 3, and she only learned to crawl about six months ago. She can’t walk or talk, and her cognitive level is probably that of a 9-month-old,” her mother told Fox News Digital. (Rebekah Lockard)
Lockard’s daughter, Naomi, has not yet received the therapy.
“We can’t help but compare Jack and Naomi, and we see how he’s meeting these milestones. He’s caught up to her developmentally, and he’ll probably surpass her within the next few months, even though they’re two years apart,” Lockard said.
“Naomi just turned 3, and she only learned to crawl about six months ago. She can’t walk or talk, and her cognitive level is probably that of a 9-month-old.”
“Kids develop paralysis in elementary school, become quadriplegic in high school and pass away in their 20s.”
Although her daughter will likely always have deficiencies, as she’s missed the “critical window” of development, the gene therapy could still stop further progression.
“If they can treat her before she gets the paralysis, the hope is that she’ll never develop that,” Lockard said.
If her daughter doesn’t receive the therapy, she will likely experience the typical trajectory of the disease, Lockard said.
“We can’t help but compare Jack and Naomi, and we see how he’s meeting these milestones,” said Lockard. “He’s caught up to her developmentally, and he’ll probably surpass her within the next few months, even though they’re two years apart.” (Rebekah Lockard)
“Kids develop paralysis in elementary school, become quadriplegic in high school and pass away in their 20s — never learning to talk, and losing any ability to move over the course of 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 for recouping research and development costs.”
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“The market is much smaller for rare diseases like SPG50, making it financially less viable for companies to invest in creating a treatment.”
Developing treatments for genetic disorders requires significant research, time and specialized technology, Penney added, all of which add to the cost and complexity.
Terry Pirovolakis, pictured with his family, used his life savings to create a genetic therapy for his youngest son, center, who has SPG50. (Terry Pirovolakis)
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.
“Managing 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, found out in 2017 that his youngest son, Michael, had SPG50.
“They told us he would be paralyzed from the waist down by the age of 10, and a quadriplegic by the age of 20,” Pirovolakis told Fox News Digital in an interview. “They said he would need support for the rest of his life.”
Pirovolakis’ two older children, pictured with their little brother, Michael (bottom left), do not have the disease. (Terry Pirovolakis)
Pirovolakis refused to accept that. He immediately started doing research and traveling around the world to gene therapy conferences, speaking with 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 Southwester Medical Center to create a “proof of concept” for a genetic treatment for his son.
“I couldn’t just let these kids die. I had to do something.”
After seeing positive results in mice studies, as well as in cells from his son and a few other children with SPG50, Pirovolakis partnered with a small company in Spain to manufacture the drug.
In Dec. 2021, Health Canada granted Pirovolakis permission to move forward with the gene therapy for his son.
In Dec. 2021, Health Canada granted Pirovolakis permission to move forward with the gene therapy for his son, Michael (above), who has shown positive results. (Terry Pirovolakis)
“After that, we had three more doses, and we decided that we had to help other kids,” Pirovolakis said.
“I couldn’t just let these kids die. I had to do something.”
He opened a Phase 2 study in the U.S., in which three more children with SPG50 were treated — including Jack Lockard.
“I tried to give the therapy to pharmaceutical companies, but no one wanted to make it, so I quit my job and started a nonprofit, CureSPG50, in California,” Pirovolakis said.
“We now have five employees and 20 consultants, and our goal is to save kids with five diseases, almost all of them fatal.”
Next, Pirovolakis will start a Phase 3 study at the National Institute of Health for SPG50, with future trials planned for other diseases.
“Doctors are ready. There just isn’t enough money to make it happen.”
The problem is that without the backing of major drug companies, there isn’t funding available to dose the therapies to the children who need it.
“They have eight doses that were produced in Spain and have been flown to the U.S.,” Lockard said.
“It’s here, just literally sitting in a refrigerator, ready to go. Doctors are ready. There just isn’t enough money to make it happen.”
Young Michael Pirovolakis is pictured with his mother, Georgia Pirovolakis. (Terry Pirovolakis)
It costs about $1 million to make the drug for each child, Pirovolakis said, and another $300,000 or so to treat each patient in the U.S. at the hospital.
While Pirovolakis and his team are actively working to secure grants and investors, it’s largely up to the parents to raise funds for the next phase of the clinical trial.
So far, Lockard has raised $50,000 via a GoFundMe fundraiser, but that is only a fraction of what is needed to get her daughter treated.
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“Right now, there are four families in the U.S. who are trying really hard to fundraise the money that’s needed, because time is of the essence,” he said.
“We want to make sure the trial moves on and these kids get treated.”
The end 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 is making a difference — then the drug will get approved and every child can get it,” he said.
“I get calls at least five times a week from families around the world, asking to help me save their kids.”
Ideally, after 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 get the therapy.
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“I get calls at least five times a week from families around the world, asking to help me save their kids,” he said.
“It’s tough — there’s only so much you can do, and unfortunately, this is a money problem. It’s just heartbreaking.”
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Collagen supplements have exploded in popularity, touted as everything from an anti-aging miracle to a muscle recovery booster.
But a sweeping new review conducted by U.K. researchers suggests that while collagen may help improve skin elasticity and ease arthritis pain, it does little for athletic performance or wrinkle reduction.
Researchers from Anglia Ruskin University analyzed 16 systematic reviews and 113 randomized controlled trials involving nearly 8,000 participants worldwide, which they say is the most extensive evaluation of collagen’s health effects to date.
The review found consistent evidence that collagen supplementation improves skin elasticity and hydration over time and provides significant relief from osteoarthritis-related joint pain and stiffness, according to findings published in Aesthetic Surgery Journal Open Forum.
A large U.K. review found that collagen supplements may improve skin elasticity and hydration over time. (iStock)
The researchers, however, did not find meaningful improvements in post-exercise muscle recovery, soreness or tendon mechanical properties (strength, springiness and stretch resistance).
“Collagen is not a cure-all, but it does have credible benefits when used consistently over time, particularly for skin and osteoarthritis,” co-author Lee Smith, professor of public health at Anglia Ruskin University, said in a statement.
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“Our findings show clear benefits in key areas of healthy aging, while also dispelling some of the myths surrounding its use,” Smith added.
Collagen, the most abundant protein in the body, supports skin, bones, tendons, cartilage and connective tissue, according to experts. Natural collagen production begins to drop in early adulthood and declines more sharply with age.
The study found that collagen supplements may help reduce joint pain and stiffness in people with osteoarthritis. (iStock)
The review found that long-term collagen supplementation was linked to improved skin firmness and hydration, but did not help skin roughness — a proxy for visible wrinkles.
Benefits appear to accumulate gradually, suggesting that collagen should not be viewed as an “anti-wrinkle ‘quick fix,’ but as a foundational dermal support for individuals seeking holistic skin maintenance,” the researchers said.
“If we define anti-aging as a product or technique designed to prevent the appearance of getting older, then I believe our findings do support this claim for some parameters,” Smith told the BBC. “For example, an improvement in skin tone and moisture is associated with a more youthful-looking appearance.”
Collagen supplementation was linked to reduced pain and stiffness in people with osteoarthritis, with stronger benefits seen over longer periods of use, and showed modest improvements in muscle mass and tendon structure that may support healthy aging.
Collagen did not significantly improve skin roughness, a marker of visible wrinkles. (iStock)
However, it did not show meaningful results when used as a fast-acting sports performance supplement, and evidence for benefits related to cholesterol, blood sugar, blood pressure and oral health was mixed or inconclusive.
Dr. Daniel Ghiyam, a California-based physician and longevity specialist, said the findings align with what he sees in clinical practice.
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“Collagen is a targeted support tool, not a foundation of health or performance,” Ghiyam, who was not involved in the study, told Fox News Digital. “When marketed that way, it makes sense. When marketed as a cure-all, it doesn’t hold up to the data.”
The authors noted that while many previous collagen studies have received financial support from the supplement industry, the current review did not receive industry funding.
Experts say collagen supplements may offer modest benefits for skin hydration and joint comfort, but they are not a cure-all. (iStock)
The team called for more high-quality clinical trials examining long-term outcomes, optimal dosages and differences between collagen sources, such as marine, bovine and plant-based alternatives.
Among its limitations, the review could not determine whether certain forms of collagen work better than others or what the optimal regimen should be.
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While the review included randomized controlled trials, the quality of the studies varied, with newer research generally showing stronger results.
Experts say more data and studies are needed to build on the findings. They also noted that diet plays a crucial role in skin health.
Collagen supplements, often sold as powders or pills, may improve skin elasticity and ease joint pain, experts say. (iStock)
Dr. Erum Ilyas, a Pennsylvania-based dermatologist and chair of dermatology at Drexel University College of Medicine, noted that the review analyzed previously published meta-analyses rather than generating new primary data.
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“At this time, I have not seen sufficiently strong independent evidence to routinely recommend collagen supplements to my patients,” Ilyas, who was not involved in the review, told Fox News Digital.
“Although some studies show modest improvements in markers such as hydration and elasticity, there remains limited independent, biopsy-confirmed evidence demonstrating sustained increases in dermal collagen content,” she added.
Fox News Digital has reached out to the researchers for comment.
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As colorectal cancer (CRC) is now the leading cause of cancer death in adults under 50, a new report reveals some surprising shifts in the incidence of the disease.
Although rates of CRC have been declining among seniors, those 65 and under are facing a rise in diagnoses, according to a report titled Colorectal Cancer Statistics, 2026, from the American Cancer Society.
Adults 65 and younger comprise nearly half (45%) of all new colorectal cancer cases — a significant increase from 27% in 1995, states the report, which was published in CA: A Cancer Journal for Clinicians.
The disease is rising fastest among adults 20 to 49 years old, at a rate of 3% per year.
Colorectal cancer is now the leading cause of cancer death in adults under 50. (iStock)
Among adults 50 and under, 75% of colorectal cancers are diagnosed at an advanced stage. Half of the diagnoses in that age range are made between the ages of 45 and 49. Although that age group is eligible to receive routine screenings, just 37% do so.
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The report also revealed that rectal cancer is on the rise, now accounting for about one-third (32%) of all CRC cases — an increase from 27% in the mid-2000s.
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“After decades of progress, the risk of dying from colorectal cancer is climbing in younger generations of men and women, confirming a real uptick in disease because of something we’re doing or some other exposure,” said Rebecca Siegel, senior scientific director, surveillance research at the American Cancer Society and lead author of the report, in a press release.
Among adults 50 and under, 75% of colorectal cancers are diagnosed at an advanced stage. Half of the diagnoses in that age range are made between the ages of 45 and 49. (iStock)
“We need to redouble research efforts to understand the cause, but also circumvent deaths through earlier detection by educating clinicians and the general public about symptoms and increasing screening in people 45-54 years.”
It is projected that 158,850 new cases of colorectal cancer will be diagnosed this year, and that the disease will cause 55,230 deaths, per the report.
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More than half of CRC cases can be linked to high-risk behaviors, the researchers said. Those include lack of nutrition, high alcohol consumption, smoking, lack of exercise and obesity.
“These findings further underscore that colorectal cancer is worsening among younger generations and highlight the immediate need for eligible adults to begin screening at the recommended age of 45,” said Dr. William Dahut, chief scientific officer at the American Cancer Society.
When the disease is caught at a local (early) stage, the five-year survival rate is 95%. (iStock)
“The report also shines a light on the crucial importance of continued funding for research to help discover new therapies to treat the disease and advance patient care.”
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When the disease is caught at a local (early) stage, the five-year survival rate is 95%, the report stated.
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A new study suggests that middle-aged men may be more vulnerable to faster biological aging, potentially linked to exposure to “forever chemicals.”
The research, published in the journal Frontiers in Aging, examined how perfluoroalkyl and polyfluoroalkyl substances, more commonly known as PFAS, could impact aging at the cellular level.
PFAS are synthetic chemicals commonly used in nonstick cookware, food packaging, water-resistant fabrics and other consumer products, the study noted.
Their chemical structure makes them highly resistant to breaking down, allowing them to accumulate in water, soil and the human body.
Chinese researchers analyzed blood samples from 326 adults enrolled in the U.S. National Health and Nutrition Examination Survey between 1999 and 2000.
A new study suggests that middle-aged men could face accelerated biological aging at the cellular level due to exposure to PFAS. (iStock)
The researchers measured levels of 11 PFAS compounds in participants’ blood and used DNA-based “epigenetic clocks” — tools that analyze chemical changes to DNA to estimate biological age — to determine how quickly their bodies were aging at the cellular level, the study stated.
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Two compounds, perfluorononanoic acid (PFNA) and perfluorooctanesulfonamide (PFOSA), were detected in 95% of participants.
Higher concentrations of those chemicals were associated with faster biological aging in men of certain age groups, but not in women.
“People should not panic.”
The compounds most strongly linked to accelerated aging were not the PFAS chemicals that typically receive the most public attention, the researchers noted.
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“The associations were strongest in adults aged 50 to 64, particularly in men,” Dr. Xiangwei Li, professor at Shanghai Jiao Tong University School of Medicine and the study’s corresponding author, told Fox News Digital.
“While this does not establish that PFAS cause aging, it suggests that these widely present ‘forever chemicals’ may be linked to molecular changes related to long-term health and aging.”
The study found that two of the compounds were detected in 95% of participants, and higher levels were linked to faster biological aging in men ages 50–64. (iStock)
Midlife may represent a more sensitive biological period, when the body becomes more vulnerable to age-related stressors, according to the researchers.
Lifestyle factors, such as smoking, may influence biological aging markers, potentially increasing vulnerability to environmental pollutants.
While Li said “people should not panic,” she does recommend looking for reasonable ways to reduce exposure.
That might mean checking local drinking water reports, using certified water filters designed to reduce PFAS, and limiting the use of stain- or grease-resistant products when alternatives are available.
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Meaningful reductions in PFAS exposure will likely depend on broader regulatory action and environmental cleanup efforts, Li added.
The researchers noted that midlife could be a particularly sensitive stage, when the body is more susceptible to stressors associated with aging. (iStock)
Study limitations
The researchers outlined several important limitations of the research, including that the findings show an association, but do not prove that PFAS directly causes accelerated aging.
“The study is cross-sectional, meaning exposure and aging markers were measured at the same time, so we cannot determine causality,” Li told Fox News Digital.
The study was also relatively small, limited to 326 adults age 50 or older, which means the findings may not apply to younger people or broader populations.
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Researchers measured PFAS levels using data collected between 1999 and 2000, and today’s exposure patterns may differ.
Li added that while PFAS is known to persist in the environment and the body, these results should be validated through larger, more recent studies that follow participants over time.
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