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.”
Every day we’re faced with a zillion small choices: Go to sleep early, or watch one more episode of that Netflix drama. Call an old friend to catch up, or cruise social media. Of course, no single action will guarantee a long, healthy life or doom you to an early grave. But those little daily decisions do add up, and over the long term they can make a difference when it comes to both your longevity and your health span, the amount of life spent in relatively good health.
Scroll through this theoretical “day in the life” and select the option that best fits your typical day. Not every situation will apply perfectly, but think about which choice you’d be most likely to make. This isn’t a formal scientific assessment. The goal here isn’t to assign you a “good” or “bad” score, but to help you understand the central factors that shape the way we age and how long we live.
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A study from Harvard Medical School indicates natural selection has favored the red hair gene, resulting in a potential increase in the number of redheaded people as humanity continues to evolve.
By analyzing nearly 16,000 ancient genomes spanning 10,000 years, researchers identified a list of traits that nature is actively pushing forward. Among the most prominent were the genetic variants for red hair.
“Perhaps having red hair was beneficial 4,000 years ago, or perhaps it came along for the ride with a more important trait,” the authors noted.
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The study, published in the journal Nature, relied on a large database of ancient DNA from West Eurasia. Using new computing methods, the team was able to filter out random fluctuations in DNA to identify what it called “directional selection.”
Directional selection happens when a particular version of a gene gives an organism a strong survival or reproductive advantage, causing it to become more common in a population faster than it would by chance, according to experts.
Directional selection is when a specific gene provides such significant benefits that it rises in frequency across a population much faster than random chance. (iStock)
Prior to this study, scientists only knew of about 21 such instances in human history, one of which was lactose tolerance. This new research uncovered hundreds more.
“With these new techniques and a large amount of ancient genomic data, we can now watch how selection shaped biology in real time,” Ali Akbari, first author of the study and senior staff scientist in the lab of Harvard geneticist David Reich, said in a press release.
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The data showed that genetic markers for red hair are among 479 gene variants that have been strongly favored over the past 10,000 years. One likely explanation, the researchers said, is a major shift in human history: the transition to farming.
Scientists have long pointed to vitamin D synthesis as a likely driver for the rise of traits like fair skin and light hair. (iStock)
As humans moved away from hunting and gathering and settled into agricultural societies, their environment and behavior changed radically, triggering an evolutionary “acceleration.”
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While the Harvard study provides the first definitive statistical proof that red hair was actively selected during the rise of farming, the researchers noted that the exact prehistoric benefit still requires more study.
However, scientists have long pointed to vitamin D synthesis as a likely driver for the rise of these light-pigmented traits in northern climates.
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While redheads remain a minority of the global population today, the Harvard study’s analysis suggests that they may not be an evolutionary accident.
While redheads remain a minority of the global population today, the Harvard study’s analysis suggests they may not be an evolutionary accident. (iStock)
Instead, the red hair trait was “boosted” by natural selection as humans adapted to the challenges of a modern world, according to the researchers.
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The researchers urged caution in how these findings are interpreted.
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“What a variant is associated with now is not necessarily why an allele propagated,” the authors noted.
Dr. Megan Jack, a neurosurgeon in Cleveland, often works 60 or 70 hours a week. And she’s completely unavailable when she’s in the operating room. That makes it tough to be a caregiver for her 76-year-old mother, who lives in a separate unit on Dr. Jack’s property, 30 minutes away from the hospital.
To help care for her mother, who has Alzheimer’s disease, Dr. Jack uses an array of high-tech tools, some of which didn’t exist just a few years ago. She manages her mother’s medications with a smart pill box. She changes her television channels with an app, sends appointment reminders through a digital message board — and, with her mother’s blessing, uses cameras for communication and monitoring.
“It’s been invaluable that I can both make sure she’s safe and make sure everything is going well,” Dr. Jack said, “but also give her the independence and the freedom that she still deserves.”
America is aging rapidly. Roughly 11,000 people are turning 65 each day in the United States. And many of them — 75 percent of people over 50, according to AARP’s most recent survey, from 2024 — hope to spend their remaining years in the comfort of their homes, rather than in assisted-living or other care facilities.
One thing that could help fulfill those wishes is the budding field of “age tech,” which encompasses tools that support older adults. Industry experts say that age tech is making homes safer for older adults and is easing the minds of their caregivers, especially those who live far away or work outside the home.
Dr. Jack said that age tech had “really allowed me to integrate caregiving into my life, as opposed to caregiving taking over my life.”
The age tech boom
If older adults don’t have loved ones who are both close by and able to help, they might believe they don’t have a ton of options. They can live independently, or, if they can afford it and qualify medically, they can move to an assisted-living facility or a nursing home, without a lot of choices in between. In-home help can be expensive without Medicaid and can also be difficult to find, given the serious shortage of home care workers.
Age tech can help bridge some important gaps, said Emily Nabors, the associate director of innovation at the National Council on Aging, a nonprofit advocacy group. Already, AARP reports that 25 percent of caregivers are remotely monitoring their loved ones with apps, videos or wearables, nearly double the percentage from five years ago.
“We used to say homes are the health care settings of the future, but they really are health care settings now,” Ms. Nabors said. “Aging in place is very realistic.”
More than 700 companies are in AARP’s AgeTech Collaborative, a group that connects businesses, nonprofits and funders to help get new technologies off the ground. Altogether, the collaborative’s start-ups have raised nearly $1 billion in the past four years.
The products include smart walkers, glasses with lenses that provide real-time captions of conversations for those with hearing issues, and a concierge service that connects older people to drivers and deliveries, even if they don’t have a smartphone.
Ms. Nabors does foresee some affordability and access barriers to age tech, including the lack of high-speed internet in rural areas, but she said one vital resource would be local aging agencies, which can offer advice and, sometimes, free support.
Janet Marasa leaned on the agency near her home in Rockland County, N.Y., to get a free robotic pet for her mother, Carol DeMaio, 80, who has dementia. The pets, manufactured by a company called Joy for All, aim to offer emotional support without the upkeep.
Ms. DeMaio named the robotic dog Sabrina, after a golden retriever who died. The new Sabrina stays at the foot of her bed at night. As soon as Ms. DeMaio stirs awake, the dog reacts. “She said it gives her a reason to get up in the morning,” Ms. Marasa said.
The dog has been a boon to her, too. “It provides comfort and interaction that I can’t provide every second,” said Ms. Marasa, who lives with her mother but works full time for the county government. “It gives her something that she can feel like is totally her own.”
In Broward County, Fla., where the population of residents over 85 is expected to nearly triple over the next few decades, the local agency on aging has used state and federal money and private grants to provide technologies to nearly 4,000 of the county’s seniors at no cost.
Its offerings include a company that uses radar to sense falls and a program that allows seniors to make video calls through their televisions.
“The possibilities are endless,” Charlotte Mather-Taylor, the agency’s chief executive, said. “It’s pretty great to see all the new technology coming out so quickly, and I think that can only benefit our older population and also our caregivers.”
Here comes A.I.
Even technologies not specifically marketed as age tech can help older adults maintain their independence, said Laurie Orlov, founder of the blog Aging and Health Technology Watch. She pointed to video-calling and telehealth platforms; remotely controlled thermostats and lights; and smart speakers, doorbells and watches.
“All technology can be customized to help older adults stay longer in their homes and help their family members feel good about it, or at least tolerate it,” Ms. Orlov said.
That will only become more true with the continued proliferation of artificial intelligence, Ms. Orlov added. Some older adults are already using conversational A.I. to get answers about things like the weather or their medications. (Relying too heavily on A.I. can, however, have negative consequences because chatbots often give flawed medical advice and can lead patients astray.) A.I. can also assist in pattern detection: alerting caregivers to signals that might indicate declines in someone’s cognition or mental health, such as changing their speech pattern or leaving the house less frequently.
One A.I.-powered age tech tool is ElliQ, a tabletop companion robot that looks like a sleek silver desk lamp with a screen. About a year and a half ago, Camille Wolsonovich got one for free, thanks to a local nonprofit, for her 90-year-old father, Bill Castellano. He lives alone in a senior community.
Ms. Wolsonovich, who runs a consulting business, relies on ElliQ to lead her father in exercises and remind him to take his pills and drink water. The robot also asks her father about his sleep and mood via automated check-ins.
“Everything’s just another layer that gives us more confidence, from a caregiving standpoint, that he’s good,” Ms. Wolsonovich said. “I don’t have to necessarily track everything all the time and be overbearing.”
As for Mr. Castellano? He plays trivia digitally and converses daily with ElliQ. The robot, which has a friendly female voice, asks questions, cracks jokes and remembers his likes, dislikes and friends. “She’s great company,” he said. “Everybody around me wants one.”
What about ethical concerns?
Clara Berridge studies the ethics of age tech at the University of Washington.
She has many privacy concerns, namely that most direct-to-consumer products aren’t subject to medical privacy laws, despite being privy to sensitive health information. Though she hopes the federal government will eventually step in to regulate these products, as it has in other countries, the onus remains on the consumer for now.
And even if an age tech product isn’t selling mom’s personal data to the lowest bidder, Dr. Berridge said there’s still the question of whether certain tools are ethical.
“It’s really important for caregivers to recognize that using these new technologies that give them more information about someone can represent greater intrusion into someone’s life,” she said.
What may be well-intentioned monitoring could reveal information that an older adult would rather keep private, such as issues with incontinence, or the comings and goings of a romantic partner.
“It can lead to somebody feeling infantilized,” Dr. Berridge said. “Like there’s not a place to hide within your own home.”
Her research shows that adult children often underestimate how much their parents can understand about technology and how much they want to be involved in tech-related decisions.
She encouraged caregivers to have transparent conversations about privacy implications and to avoid ultimatums or the idea that any decision must be permanent. She said caregivers should put themselves in their parents’ shoes: Is this something they’d want their own children monitoring?
Dr. Berridge is working on an advanced directive for technology, which outlines older people’s wishes for how technology is used in their care. Ultimately, she hopes that questions about age tech will become a standard part of planning for the future.
“If you’re at the start of what, for many people, ends up being a long road of supporting someone potentially through the end of their life,” she said, “seeking to understand each other’s concerns and priorities better is time very well spent.”
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