A treatment for SPG50

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.

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.

"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. 

"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. 

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.

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. 

"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 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.

"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."

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.

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 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.

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."

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.

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. 

"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."

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."

https://www.foxnews.com/health/father-created-drug-save-his-son-from-rare-disease-now-other-families-desperate-get

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.

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.

When Naomi Lockard was born in 2021, 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.

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 (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.

"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.

"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.

"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.

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.

"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 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.

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 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.

"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, Elpida Therapeutics, 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."

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 (called "Naomi and Jack Battle SPG50"), but that is only a fraction of what is needed to get her daughter treated.

"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.

"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."

https://www.foxnews.com/health/mother-frantic-save-clinical-trial-could-cure-daughter-treatment-sitting-fridge