Health
Father created a drug to save his son from a rare disease, now other families are desperate to get it
When his infant son was diagnosed with a rare, fatal disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself.
Terry Pirovolakis, an IT director in Toronto, Ontario, welcomed his third son in Dec. 2017. It was a “normal, healthy birth,” he told Fox News Digital — but within six months, he and his wife, Georgia Pirovolakis, noticed their baby, Michael, was not lifting his head.
“He just didn’t seem like he was meeting his milestones,” Pirovolakis said.
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After months of doctors’ appointments, physiotherapy and genetic testing — what Pirovolakis describes as an “18-month diagnostic odyssey” — a neurologist diagnosed baby Michael with spastic paraplegia 50 (SPG50), a neurological disorder that affects fewer than 100 people in the world.
“They told us to just go home and love him — and said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20,” Pirovolakis said.
When Michael Pirovolakis, pictured. was diagnosed with a rare, fatal disease as an infant, his father, Terry Pirovolakis, was dismayed to discover there was no treatment or cure. That’s when he set out to make one himself. (Terry Pirovolakis)
“They said he’d never walk or talk, and would need support for the rest of his life.”
What is SPG50?
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.
“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.
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“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 Michael Pirovolakis’ care.
“The prognosis varies from person to person, but it’s generally a progressive condition, meaning symptoms can become more severe over time,” she also said.
Georgia Pirovolakis (left) is pictured with her two sons, including baby Michael, who was diagnosed with 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,” she added.
A father’s mission
There is no treatment currently approved by the U.S. Food and Drug Administration (FDA) for SPG50.
After the shock of the diagnosis, Pirovolakis immediately started researching, with a focus on finding a gene therapy that could help his son.
“They said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20.”
A month after his baby’s diagnosis, Pirovolakis flew to Washington, D.C., for a gene therapy conference, where he met with several experts. He also visited Sheffield, England, and the National Institutes of Health at the University of Cambridge, where scientists had been studying the disease.
“We then liquidated our life savings, refinanced our home and paid a team at the University of Texas Southwestern Medical Center to create a proof of concept to start Michael’s gene therapy,” Pirovolakis said.
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)
After successful tests showed the gene therapy was effective at stopping the disease’s progression in mice and in human cells, Pirovolakis worked with a small drug company in Spain to manufacture the drug.
On Dec. 30, 2021, Health Canada granted approval to move forward with the gene therapy for Michael Pirovolakis.
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“On March 24, 2022, my son was the first person to ever get treated with gene therapy at SickKids in Toronto,” Pirovolakis said.
The procedure, which involves injecting cerebral spinal fluid through a lumbar puncture, does come with risks — but the potential benefits are life-saving.
‘I couldn’t let them die’
After Michael Pirovolakis received the one-time treatment, there were three more doses left.
“We decided that we had to help other kids,” Pirovolakis said.
“When I heard that no one was going to do anything about it, I had to — I couldn’t let them die.”
Pirovolakis’ two older children, pictured with their little brother, Michael, bottom left, do not have the disease. (Terry Pirovolakis)
Pirovolakis opened up a Phase 2 study in the U.S., which treated three children two years ago.
One of those was 6-month-old Jack Lockard, the youngest child to ever receive the treatment.
“Jack has thrived since then,” Rebekah Lockard, the boy’s mother, told Fox News Digital.
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“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.
The Lockard family, shown here, is fighting to raise funds to obtain treatment for their daughter Naomi, at right, who has SPG50. (Rebekah Lockard)
“They’ve all shown that their disease has stopped progressing and their cognition has improved.”
There are more children who still need the treatment — including Lockard’s first child, 3-year-old Naomi, who also has SPG50 — but are unable to access it because the clinical trial has now run out of money, as Fox News Digital previously reported.
‘Time is of the essence’
It costs about $1 million to make the drug for each child, Pirovolakis said, and another $300,000 or so to treat the patient in the U.S. at the hospital.
Pirovolakis has approached pharmaceutical companies, but all of them have declined to manufacture the drug.
“We want to make sure the trial moves on and these kids get treated.”
“No investor is going to give you money to treat a disease that is not going to make money,” he said. “That’s the dilemma we’re in.”
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 more than $90,000 via GoFundMe (called “Naomi and Jack Battle SPG50”) to get her daughter’s treatment, but that is only a fraction of what is needed. (Rebekah Lockard)
So far, Lockard has raised more than $90,000 via GoFundMe (called “Naomi and Jack Battle SPG50”) to get her daughter’s treatment, but that is only a fraction of what is needed.
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.”
To devote himself to the cause, Pirovolakis quit his job and started a nonprofit in California, which now has five employees and 20 consultants.
The company — called Elpida Therapeutics, after the Greek word for “hope” — will run a Phase 3 study for SPG50 at the NIH in November.
Terry Pirovolakis, second from left, is pictured with members of his team at his nonprofit, Elpida Therapeutics. Elpida Therapeutics has partnered with the Columbus Children’s Foundation (Fundación Columbus in Spain) and CureSPG50 to help save children with the disease. (Pirovolakis)
Without the backing of major drug companies, however, there isn’t funding available to get the therapies to the children who need them.
Eight doses of the drug for SPG50 were produced in Spain and have been flown to the U.S.
“The treatment is here, just literally sitting in a refrigerator, ready to go,” Lockard said. “Doctors are ready. There just isn’t enough money to make it happen.”
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There are currently four families in the U.S. who are trying to raise the money that’s needed, according to Pirovolakis.
“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.
Michael Pirovolakis is pictured walking with the aid of a walker. 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. (Terry Pirovolakis)
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.
Elpida Therapeutics has partnered with the Columbus Children’s Foundation (Fundación Columbus in Spain) and CureSPG50 to help save children with the disease.
“Our partnership with Elpida is driven by an unwavering commitment to leaving no child behind,” Sheila Mikhail, co-founder of the CCF, said in a statement to Fox News Digital.
“At the Columbus Children’s Foundation and Fundacion Columbus, as a global organization, we believe that every child deserves a chance for a healthy future. Together, we’re making groundbreaking strides in treating ultra-rare genetic disorders, ensuring that no child is left to face these challenges alone.”
“The biggest challenge in providing treatment for children with rare diseases often comes down to a lack of funding and vision.”
Pirovolakis said he gets several calls each week from families around the world, asking for help saving their children.
“Unfortunately, the biggest challenge in providing treatment for children with rare diseases often comes down to a lack of funding and vision,” he told Fox News Digital.
After Jack Lockard, pictured, received the gene therapy at 6 months old, the family soon noticed improvements in his cognitive and physical milestones. (Rebekah Lockard)
“The technology to cure our children is already here. I hope that someone with immense wealth — and more importantly, the vision and influence — will step in,” he said.
“Their support could not only impact a handful of diseases and children, but extend hope to thousands of rare diseases and millions of children, both this generation and the next.”
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Currently, 40 million Americans are living with a rare disease, and one in 10 will be afflicted by a potentially treatable rare condition.
Pirovolakis added, “Someone you know or love will likely be affected by a rare disease.”
Health
Brain Health Challenge: Try a Brain Teaser
Welcome back! For Day 4 of the challenge, let’s do a short and fun activity based around a concept called cognitive reserve.
Decades of research show that people who have more years of education, more cognitively demanding jobs or more mentally stimulating hobbies all tend to have a reduced risk of cognitive impairment as they get older.
Experts think this is partly thanks to cognitive reserve: Basically, the more brain power you’ve built up over the years, the more you can stand to lose before you experience impairment. Researchers still don’t agree on how to measure cognitive reserve, but one theory is that better connections between different brain regions corresponds with more cognitive reserve.
To build up these connections, you need to stimulate your brain, said Dr. Joel Salinas, a neurologist at NYU Langone Health and the founder and chief medical officer of the telehealth platform Isaac Health. To do that, try an activity that is “challenging enough that it requires some effort but not so challenging that you don’t want to do it anymore,” he said.
Speaking a second language has been shown to be good for cognition, as has playing a musical instrument, visiting a museum and doing handicrafts like knitting or quilting. Reading is considered a mentally stimulating hobby, and experts say you’ll get an even bigger benefit if you join a book club to make it social. Listen to a podcast to learn something new, or, better yet, attend a lecture in person at a local college or community center, said Dr. Zaldy Tan, the director of the Memory and Healthy Aging Program at Cedars-Sinai. That adds a social component, plus the extra challenge of having to navigate your way there, he said.
A few studies have found that playing board games like chess can be good for your brain; the same goes for doing crossword puzzles. It’s possible that other types of puzzles, like those you find in brain teaser books or from New York Times Games, can also offer a cognitive benefit.
But there’s a catch: To get the best brain workout, the activity should not only be challenging but also new. If you do “Wordle every day, it’s like well, then you’re very, very good at Wordle, and the Wordle part of your brain has grown to be fantastic,” said Dr. Linda Selwa, a clinical professor of neurology at the University of Michigan Medical School. “But the rest of your mind might still need work.”
So play a game you’re not used to playing, Dr. Selwa said. “The novelty seems to be what’s driving brain remodeling and growth.”
Today, we want you to push yourself out of your cognitive comfort zone. Check out an online lecture or visit a museum with your challenge partner. Or try your hand at a new game, below. Share what novel thing you did today in the comments, and I’ll see you tomorrow for Day 5.
Health
Popular intermittent fasting diets may not deliver the health benefits many expect
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Time-restricted eating has gained popularity in recent years, but a recent study suggests that intermittent fasting — while effective for weight loss — might not live up to the hype in terms of wider benefits.
The small German study found that participants who were placed on two different time-restricted eating schedules lost weight, but experienced no improvement in blood glucose, blood pressure, cholesterol or other key cardiometabolic markers.
The participants included 31 overweight or obese women. One group ate between 8 a.m. and 4 p.m. and the other group ate between 1 p.m. and 9 p.m. for a two-week period, while maintaining their typical caloric intake, according to a press release.
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The findings, which were published in the journal Science Translational Medicine, suggest that the widely touted cardiometabolic benefits of intermittent fasting may be a result of eating fewer calories rather than meal timing, the researchers say.
The participants also showed a shift in their circadian rhythms (sleep/wake cycles) when they were placed on the time-restricted eating schedules, but the associated health impacts are not known.
A recent study suggests that intermittent fasting — while effective for weight loss — might not live up to the hype in terms of wider benefits. (iStock)
The study did have some limitations. Some researchers have cast doubt on the significance of the study due to its small size.
“It is severely underpowered to detect any difference, considering how gentle the intervention is,” Dr. Dr. Jason Fung, a Canadian physician, author and researcher, told Fox News Digital. He also noted that the participants were fasting for 16 hours a day instead of the normal 12 to 14 hours.
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Lauren Harris-Pincus, a registered dietitian nutritionist in New Jersey, agreed that the findings could be due to the fact that there was no intentional caloric restriction, and reiterated that the sample size is “quite small.”
“As a registered dietitian, I only recommend time-restricted eating when it is carefully planned and shifted earlier within the day,” Harris-Pincus, who was not involved in the study, told Fox News Digital.
One group in the study ate between 8 a.m. and 4 p.m. and the other group ate between 1 p.m. and 9 p.m. for a two-week period, while maintaining their typical caloric intake. (iStock)
“Only one in 10 Americans consumes the recommended number of fruits and veggies, and 93% miss the mark on fiber goals. Restricting an eating window necessitates more careful meal planning to ensure adequate intake of macro- and micronutrients.”
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The expert also cautioned that skipping breakfast to enable a later eating window may result in lower intake of the “nutrients of concern” in the American diet, including calcium, potassium, fiber and vitamin D.
Looking ahead, the researchers said more studies are needed to explore the effects of time-restricted eating over longer time periods. It also remains to be seen how the combination of caloric restriction and time-restricted eating may affect outcomes. Future research could also explore how different populations may respond.
“I only recommend time-restricted eating when it is carefully planned and shifted earlier within the day.”
Dr. Daryl Gioffre, a gut health specialist and celebrity nutritionist in New York, noted that the study didn’t account for critical factors like chronic stress, sleep quality, medications, hormone status and baseline metabolic health.
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“All of these can significantly blunt fat loss and cardiometabolic improvements,” Gioffre, who also was not involved in the research, told Fox News Digital.
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“Cortisol, the body’s primary stress hormone, is naturally highest in the morning, which overlaps with one of the fasting windows studied,” he went on. “If stress is elevated, cortisol alone can block fat burning, disrupt blood sugar regulation, and mask cardiovascular improvements, regardless of calorie intake or eating window.”
Growing research shows intermittent fasting — when done correctly and sustained over time — can improve insulin regulation, reduce inflammation, support fat loss and contribute to better cardiovascular health, an expert said. (iStock)
Gioffre did agree, however, that growing research shows intermittent fasting — when done correctly and sustained over time — can improve insulin regulation, reduce inflammation, support fat loss and contribute to better cardiovascular health.
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“These are outcomes that simply cannot be captured in a short, stress-blind study like this,” he added.
Fox News Digital reached out to the researchers for comment.
Health
Brain Health Challenge: Workouts to Strengthen Your Brain
Today, you’re going to do perhaps the single best thing for your brain.
When I asked neurologists about their top behaviors for brain health, they all stressed the importance of physical activity.
“Exercise is top, No. 1, when we’re thinking about the biggest bang for your buck,” said Dr. Gregg Day, a neurologist at the Mayo Clinic.
Numerous studies have shown that people who exercise regularly tend to perform better on attention, memory and executive functioning tests. There can be a small cognitive boost immediately after a workout, and the effects are sustained if people exercise consistently. And while staying active can’t guarantee you won’t develop dementia, over the long term, it is associated with a lower risk of it.
Researchers think that moving your muscles benefits your brain in part because of special signaling molecules called exerkines. During and after a workout, your muscles, fat and other organs release these molecules into the bloodstream, some of which make their way up to the brain. There, those exerkines go to work, helping to facilitate the growth of new connections between neurons, the repair of brain cells and, possibly, the birth of new neurons.
Exercise also appears to improve blood flow in the brain. That ramps up the delivery of good things to brain cells, like oxygen, glucose and those amazing exerkines. And it helps remove more bad things, namely toxic proteins, like amyloid, that can build up and damage brain cells, increasing the risk for Alzheimer’s.
All of the changes brought on by exercise are “essentially allowing your brain to age more slowly than if you’re physically inactive,” said Kirk Erickson, the chair of neuroscience at the AdventHealth Research Institute.
The benefits are particularly pronounced in the hippocampus, a region critical for learning and memory. In older adults, the hippocampus shrinks 1 to 2 percent a year, and it is one of the main areas affected by Alzheimer’s. Researchers think physical activity helps to offset some of that loss.
The best exercise you can do for your brain is the one you’ll do consistently, so find something that you enjoy and that fits easily into your life.
Walking is one option; two neurologists I spoke to said they got their exercise in by walking at least part of the way to their offices. Recent research suggests that just a few thousand steps a day can reduce the risk of dementia. It’s important to get your heart rate up, though, so “walk as though you’re trying to get somewhere on time,” said Dr. Linda Selwa, a clinical professor of neurology at the University of Michigan Medical School.
Or you could try swimming, cycling, Pilates, weight lifting, yoga, pickleball, dancing, gardening — any type of physical exertion can be beneficial.
If the thought of working out feels like a drag, try pairing it with something else you enjoy doing, like listening to an audiobook. This is a trick that Katherine Milkman, a professor who studies habits at The Wharton School of the University of Pennsylvania, calls “temptation bundling.”
For Day 3, we’re asking you to spend at least 20 minutes exercising for your brain. Go for a walk with your accountability partner if they’re nearby. (If not, call them and do a walk-and-talk.) Or let us find you a new workout to try, using the tool below. As usual, we can all meet in the comments to catch up and check in.
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