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.
WHAT IS ANGELMAN SYNDROME? COLIN FARRELL’S SON IS LIVING WITH THIS RARE DISEASE
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.
NEW DRUG FOR STIFF PERSON SYNDROME GRANTED DESIGNATION TO SPEED UP DEVELOPMENT: ‘THRILLED FOR THE COMMUNITY’
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.
STIFF PERSON SYNDROME PATIENTS SHARE WHAT IT’S LIKE TO LIVE WITH THE RARE DISEASE
“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.
PENNSYLVANIA MOM SEEKS ‘PERFECT MATCH’ BONE MARROW DONOR TO CURE DAUGHTER’S RARE DISORDER: ‘CRUCIAL NEED’
“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.”
THE GIRL WHO CAN’T SMILE: HOW A RARE DISORDER BECAME A YOUNG WOMAN’S ‘GREATEST GIFT’
“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.
CLICK HERE TO SIGN UP FOR OUR HEALTH NEWSLETTER
“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.
For more Health articles, visit www.foxnews.com/health
“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.”
Use left and right arrow keys to navigate between menu items.
Use escape to exit the menu.
Sign Up
Create a free account to access exclusive content, play games, solve puzzles, test your pop-culture knowledge and receive special offers.
Already have an account? Login
Study finds link between obesity and vascular dementia
Fox News senior medical analyst Dr. Marc Siegel joins ‘America’s Newsroom’ to discuss an increase in colon cancer in people under 50 despite an overall lowering cancer deaths and a new study linking obesity to vascular dementia.
NEWYou can now listen to Fox News articles!
A new blood test could determine a woman’s dementia risk as early as 25 years before symptoms emerge.
That’s according to new research from the University of California San Diego, which found that a specific biomarker protein associated with early pathological processes of Alzheimer’s disease was “strongly linked” to future dementia risk.
The researchers analyzed blood samples from 2,766 participants in the Women’s Health Initiative Memory Study in the late 1990s, according to the study’s press release.
KEY FITNESS MEASURE IS STRONG PREDICTOR OF LONGEVITY AFTER CERTAIN AGE, STUDY FINDS
The women ranged from 65 to 79 years of age and showed no signs of cognitive decline at the start of the study.
After tracking the participants for up to 25 years, the researchers concluded that the biomarker phosphorylated tau 217 (p-tau217) was “strongly associated” with future mild cognitive impairment and dementia.
A new blood test could determine a woman’s dementia risk as early as 25 years before symptoms emerge. (iStock)
Women who had higher levels of p-tau217 at the beginning of the study were “much more likely” to develop the disease. The findings were published today in JAMA Network Open.
“The key takeaway is that our study suggests it may be possible to detect risk of dementia two decades in advance using a simple blood test in older women,” first author Aladdin H. Shadyab, a UC San Diego associate professor of public health and medicine, told Fox News Digital.
“These biomarkers may help us identify who is at greatest risk and develop strategies to delay or prevent dementia.”
“Our findings show that the blood biomarker p-tau217 could help identify individuals at higher risk for dementia long before symptoms begin,” he added.
This long lead time could open the door to earlier prevention strategies and more targeted monitoring, rather than waiting until memory problems are already affecting daily life, according to Shadyab.
A specific biomarker protein associated with early pathological processes of Alzheimer’s disease was “strongly linked” to future dementia risk. (iStock)
“As the research advances, these biomarkers may help us identify who is at greatest risk and develop strategies to delay or prevent dementia,” he said.
This risk relationship wasn’t the same across the board, however. Women over 70 with higher p-tau217 levels had “poorer cognitive outcomes” compared to those under 70, as did those with the APOE ε4 gene, which is a known risk factor for Alzheimer’s disease.
The study also found that p-tau217 was a stronger predictor of dementia in women who were randomly assigned to receive estrogen and progestin hormone therapy compared to those who received a placebo.
CLICK HERE TO SIGN UP FOR OUR HEALTH NEWSLETTER
“Blood-based biomarkers like p-tau217 are especially promising because they are far less invasive and potentially more accessible than brain imaging or spinal fluid tests,” said senior author Linda K. McEvoy, senior investigator at Kaiser Permanente Washington Health Research Institute and professor emeritus at the Herbert Wertheim School of Public Health, in the release.
“Blood-based biomarkers like p-tau217 are especially promising because they are far less invasive and potentially more accessible than brain imaging or spinal fluid tests,” a researcher said. (iStock)
“This is important for accelerating research into the factors that affect the risk of dementia and for evaluating strategies that may reduce risk.”
Blood tests for Alzheimer’s disease are still being studied and are not recommended for routine screening in people without symptoms, Shadyab noted.
TEST YOURSELF WITH OUR LATEST LIFESTYLE QUIZ
More research is needed before this approach can be considered for clinical use prior to cognitive symptoms.
Future studies should investigate how other factors — like genetics, hormone therapy and age-related medical conditions — might interact with plasma p-tau217, the researchers added.
CLICK HERE FOR MORE HEALTH STORIES
“The study examined only older women, so the findings may not necessarily apply to men or younger populations,” Shadyab noted. “We also examined overall dementia outcomes rather than specific subtypes such as Alzheimer’s disease.”
NEWYou can now listen to Fox News articles!
For women over 60, muscle strength plays a critical role in longevity, a new study confirms.
Researchers at the University at Buffalo, New York, followed more than 5,000 women between the ages of 63 and 99, finding that those with greater muscle strength had a significantly lower risk of death over an eight-year period.
The findings were published in JAMA Network Open.
EXERCISE AFFECTS THE HEART IN A HIDDEN, POWERFUL WAY BY REWIRING NERVES, STUDY FINDS
Muscle function was measured using grip strength and how quickly participants could complete five unassisted sit-to-stand chair raises.
These are two tests commonly used in clinical settings to evaluate muscle function in older adults, the researchers noted.
A recent study shows that stronger muscle strength in women over 60 is linked to a lower risk of death over eight years. (iStock)
“In a community cohort of ambulatory older women, muscular strength was associated with significantly lower mortality rates, even when we accounted for usual physical activity and sedentary time measured using a wearable monitor, gait speed and blood C-reactive protein levels,” study lead author Michael LaMonte, research professor of epidemiology and environmental health at the University at Buffalo, told Fox News Digital.
“Movement is the key — just move more and sit less.”
Many earlier studies did not include those objective measurements, making it difficult to determine whether muscle strength itself was linked to longevity, according to LaMonte. “Our study was able to better isolate the association between strength and death in later life,” he added.
Even for women who don’t get the recommended amount of aerobic physical activity, which is at least 150 minutes per week, muscle strength remained important for longevity, the researchers found.
Women with greater muscle strength were more likely to live longer, even if they did not meet the recommended amount of aerobic exercise. (iStock)
“The findings of lower mortality in those who had higher strength but were not meeting current national guidelines on aerobic activity were somewhat intriguing,” LaMonte said.
CLICK HERE FOR MORE LIFESTYLE STORIES
Federal guidelines recommend strengthening activities one to two days per week, targeting major muscle groups.
Resistance training does not have to require a gym membership, LaMonte noted. These exercises can be performed using free weights, resistance bands, bodyweight movements or even household items, such as soup cans.
Experts recommend working major muscle groups one or two days a week using weights, bands or bodyweight exercises. (iStock)
“Movement is the key — just move more and sit less,” he said. “When we can no longer get out of the chair and move around, we are in trouble.”
TEST YOURSELF WITH OUR LATEST LIFESTYLE QUIZ
LaMonte acknowledged several limitations of the study. The researchers assessed muscle strength in older age but did not explore how earlier levels in adulthood might influence long-term health outcomes.
CLICK HERE TO DOWNLOAD THE FOX NEWS APP
“We were not able to understand how strength and mortality relate in younger ages,” he said, noting that future research should explore whether building strength earlier could have an even greater impact on longevity.
4Warn Weather Alert issued for Wednesday morning in Metro Detroit — What this means
Court document details attack on SF mayor’s bodyguard as Lurie responds to incident
Cowboys Team Doctor Played Role in Maxx Crosby-Ravens Trade Debacle
2-year-old boy bitten in face by two pit bulls in Miami Gardens backyard, police say
Shay Maloney’s overtime goal lifts Boston Fleet to road victory
Florida High School Football Rankings: Top 25 teams – Oct. 21
Cleary's 21 help Le Moyne down Central Connecticut State 69-64 in OT
How old is Bo Nix? What to know about Oregon quarterback ahead of 2024 NFL Draft
99th annual Pony Swim held in Virginia
Indiana Members Credit Union announced as new anchor tenant at Bottleworks District
EXCLUSIVE: ICE says El Paso detention facility will stay open under new contractor after $1.2B deal scrapped
Von der Leyen ‘acting outside of competence,’ Araud tells Euronews
Wheelchair curler Steve Emt’s path from drunk driver to three-time Paralympian
Map: 2.3-Magnitude Earthquake Reported North of New York City
Trump stirs GOP primary drama with visit to Massie’s Kentucky home turf
-
Wisconsin1 week agoSetting sail on iceboats across a frozen lake in Wisconsin
-
Massachusetts1 week agoMassachusetts man awaits word from family in Iran after attacks
-
Pennsylvania6 days agoPa. man found guilty of raping teen girl who he took to Mexico
-
Detroit, MI5 days agoU.S. Postal Service could run out of money within a year
-
Miami, FL7 days agoCity of Miami celebrates reopening of Flagler Street as part of beautification project
-
Sports7 days agoKeith Olbermann under fire for calling Lou Holtz a ‘scumbag’ after legendary coach’s death
-
Virginia7 days agoGiants will hold 2026 training camp in West Virginia
-
Culture1 week agoTry This Quiz on the Real Locations in These Magical and Mysterious Novels