Father Creates a Cure for His Son’s Rare Disease
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by
Ree Webster
Father created a drug to save his son from a rare disease; now other families are desperate to get it…
When Terry Pirovolakis’ son, Michael, was diagnosed with an ultra-rare neurodegenerative disorder called SPG50, he was devastated. The news came with a grim prognosis: without treatment, doctors expected Michael to eventually lose the ability to walk and talk, becoming paralyzed from the waist down by age 10 and quadriplegic by age 20. Determined not to accept this fate, Pirovolakis set out on an ambitious mission to find a cure for his son, and through his relentless efforts, he helped create a groundbreaking gene therapy for SPG50, giving hope not only to his son but to families worldwide grappling with rare diseases.
Pirovolakis recounted his initial reaction to the diagnosis: “He just didn’t seem like he was meeting his milestones… 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.” He added, “They said he’d never walk or talk and would need support for the rest of his life.”
What is SPG50?
SPG50, or spastic paraplegia type 50, is a rare genetic disorder that affects the nervous system, causing progressive muscle weakness, spasticity, and developmental delays. Primarily affecting children, SPG50 impairs mobility, motor skills, and often cognitive development. The disease is caused by mutations in the AP4M1 gene, which plays a role in brain and nerve cell functioning. Although cases of SPG50 are extremely rare, they have a profound impact on the quality of life of those affected.
Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor for Drugwatch, explained:
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"Children with SPG50 may experience early developmental delays, muscle weakness and spasticity, but they continue to strive and adapt...Over time, these symptoms can worsen, making it hard for affected individuals to walk and perform daily activities... The prognosis varies from person to person, but it’s generally a progressive condition, meaning symptoms can become more severe over time... Managing SPG50 requires a comprehensive, multidisciplinary approach to address its various symptoms and challenges...Children with SPG50 may experience early developmental delays, muscle weakness, and spasticity, but they continue to strive and adapt.”
How the Father Created the Treatment
With no existing treatment approved by the U.S. Food and Drug Administration (FDA) for SPG50, Pirovolakis knew he would need to take extraordinary measures to help his son. After receiving the diagnosis, he immediately immersed himself in research, determined to find a potential cure. His focus quickly shifted to gene therapy, a revolutionary approach that could potentially replace or repair Michael’s faulty genes.
Faced with the dire nature of the situation Pirovolakis vowed not to give up. Instead he and his family liquidated their life savings, refinanced their home, and invested everything they had into a team at the University of Texas Southwestern Medical Center to create a proof of concept for Michael’s gene therapy. This financial sacrifice allowed them to move forward in developing a therapy that could alter the course of Michael’s disease.
After years of effort, their breakthrough came on December 30, 2021, when Health Canada granted approval to proceed with the therapy for Michael. Just months later, on March 24, 2022, Michael became the first person in the world to receive this gene therapy at SickKids Hospital in Toronto. The procedure, though risky, offered a new chance for Michael. It involved injecting cerebral spinal fluid into his body through a lumbar puncture, allowing the gene therapy to target his central nervous system directly.
AAV gene therapy for SPG50
The Cost of Developing Drugs
Creating a drug for a rare disease like SPG50 is a costly endeavor, with an estimated $1 million required to manufacture the drug for each child, plus an additional $300,000 to cover treatment in a U.S. hospital. Unfortunately, Pirovolakis’ attempts to collaborate with pharmaceutical companies met with disappointment. These companies generally prioritize treatments for more common diseases, as they promise larger markets and a greater chance to recoup the high costs of drug development. As Pirovolakis told Fox News:
“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.”
Undeterred, Pirovolakis established Elpida Therapeutics, named after the Greek word for “hope.” In November, Elpida Therapeutics is set to launch a Phase 3 study at the National Institutes of Health (NIH), aiming to bring this life-saving therapy closer to full approval.
Today, there are four families in the U.S. who, inspired by Michael’s story, are working to raise the funds needed to access the treatment. “Time is of the essence,” Pirovolakis said. “We want to make sure the trial moves on and these kids get treated.”
The Ultimate Goal
Looking ahead to the upcoming Phase 3 clinical trial, Pirovolakis’ goal is clear: he aims to treat eight children with SPG50. This small but vital group could pave the way for broader approval, giving all children with SPG50 access to the therapy.
“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,” Pirovolakis explained.
The Columbus Children’s Foundation, a global organization dedicated to advancing treatments for rare diseases, has partnered with Elpida Therapeutics. Sheila Mikhail, co-founder of the CCF, said in a statement to Fox News Digital, said:
“Our partnership with Elpida is driven by an unwavering commitment to leaving no child behind…
“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.”
Despite the progress, Pirovolakis is realistic about the challenges of developing treatments for rare diseases. The greatest obstacles, he notes, are often a lack of funding and vision. He receives numerous calls each week from families worldwide, all of them looking for ways to save their children from rare, life-threatening diseases.
“Unfortunately, the biggest challenge in providing treatment for children with rare diseases often comes down to a lack of funding and vision.”
“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,”
“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.”
Pirovolakis hopes that philanthropists or influential individuals will step in to support the cause, recognizing the potential to change not only SPG50’s trajectory but also countless other rare conditions. “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,” he said.
In Conclusion
Pirovolakis’ journey to create a cure for his son is a powerful example of parental love and determination, as well as the pressing need for more support for rare disease research. His efforts have not only provided hope for Michael but have also set the stage for a groundbreaking gene therapy that could help children worldwide. By creating Elpida Therapeutics and pushing forward with clinical trials, Pirovolakis has given families new possibilities where none previously existed.
Michael’s story underscores the challenges families of children with rare diseases face, including the high costs and lack of commercial interest in developing treatments. Yet, it also shows what can be achieved through courage, persistence, and the belief that every child deserves a chance at a healthy life. As the world waits for the results of the upcoming clinical trials, Pirovolakis’ work offers hope to those battling rare conditions, proving that even the most daunting obstacles can sometimes be overcome.
