When a father discovered that his infant son had SPG50, a rare disease with no cure, he took extraordinary steps to find a solution.
SPG50, or Spastic paraplegia 50, is a rare neurological disorder that disrupts a child’s development, causing cognitive decline, muscle weakness, speech difficulties, and ultimately paralysis, according to the National Organization for Rare Disorders.
If left untreated, the condition typically limits life expectancy to 20 to 30 years.
Dr. Eve Elizabeth Penney, an epidemiologist, notes that children with SPG50 often experience early developmental delays and muscle weakness. Yet, they strive to adapt to their circumstances.
As the disorder progresses, symptoms usually intensify, making walking and daily activities increasingly challenging. While the rate of progression can vary, SPG50 is broadly progressive.
In the absence of a cure, families manage the condition through a range of therapies, including physical, occupational, and speech therapy, along with medications to control spasticity or seizures.
Effectively addressing SPG50 requires a comprehensive, multidisciplinary approach to managing its various symptoms and challenges.
Not content with simply accepting the diagnosis, he aimed to develop a treatment not only for his own child but for others facing the same condition.
Terry Pirovolakis, an IT director from Toronto, Ontario, welcomed his third son, Michael, in December 2017.
At first, everything seemed normal. However, within six months, Terry and his wife, Georgia, noticed a concerning sign: their baby wasn’t lifting his head.
“He just didn’t seem like he was meeting his milestones,” Terry told Fox News.
After an exhausting 18 months of medical appointments and tests, Terry Pirovolakis and his family received a devastating diagnosis: their son, Michael, had spastic paraplegia 50 (SPG50), a rare disorder affecting fewer than 100 people worldwide.
Doctors told the family to “go home and love him,” and warned that Michael would probably be paralyzed from the waist down by age 10 and become a quadriplegic by age 20.
“They said he’d never walk or talk, and would need support for the rest of his life,” said Terry.
Currently, there are no FDA-approved treatments for SPG50. After receiving this disheartening news, Terry immediately began searching for a gene therapy that could help his son.
Within a month of Michael’s diagnosis, Terry traveled to Washington, D.C., to attend a gene therapy conference and meet experts.
He also visited Sheffield, England, and the National Institutes of Health at the University of Cambridge, where researchers were 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,” the father shared.
After tests confirmed that the gene therapy could halt the disease in mice and human cells, Terry worked with a small drug company in Spain to manufacture it.
On December 30, 2021, Health Canada approved the therapy for Michael. Consequently, on March 24, 2022, Michael became the first patient to receive this treatment at SickKids Hospital in Toronto.
Although the procedure involves injecting cerebral spinal fluid through a lumbar puncture and carries some risks, it offers a potentially life-saving solution.
Meanwhile, three doses remained after Michael received his single gene therapy dose.
Seeing no further action, Terry extended the therapy to other children and started a Phase 2 study in the U.S.
The study began treating three children, including 6-month-old Jack Lockard, the youngest recipient, two years ago.
Jack’s mother, Rebekah Lockard, reported significant progress, noting that Jack is now sitting independently, playing with toys, drinking from a straw, and working on crawling.
Doctors and therapists agree that the treatment is effective. Other children in the trial have also shown positive results, with their disease progression halting and cognitive skills improving.
However, many children, including Lockard’s 3-year-old daughter Naomi, who also has SPG50, a rare disease, are still waiting for treatment due to the trial running out of funds.
Terry estimates that each dose of the SPG50 drug costs around $1 million, plus an additional $300,000 for treatment at a U.S. hospital.
Despite his attempts to gain support from pharmaceutical companies, he has faced rejection, as no company wants to invest in a treatment for a rare disease with uncertain financial returns.
“No investor is going to give you money to treat a disease that isn’t going to make money,” he explained.
With the challenge of securing grants and investors, much fundraising responsibility falls on families.
For instance, Rebekah has raised over $90,000 through a GoFundMe campaign for her daughter Naomi’s treatment, but this covers only a small portion of the needed funds.
Penney pointed out that developing treatments for rare diseases like SPG50 is costly and less appealing to drug companies due to the limited market.
In response, Terry resigned from his job and started a nonprofit organization in California, Elpida Therapeutics, named after the Greek word for “hope.”
This organization is set to conduct a Phase 3 study for SPG50 at the NIH in November. However, there are still major funding gaps.
Eight doses of the SPG50 drug are already in the U.S. but remain unused due to financial constraints.
“The treatment is here, just literally sitting in a refrigerator, ready to go,” Lockard said.
Currently, four U.S. families are working to raise the necessary funds.
“Time is of the essence,” Terry emphasized. “We need to ensure the trial continues and these children receive the treatment they need.”
As the Phase 3 clinical trial at the NIH nears, Terry Pirovolakis plans to treat eight children with SPG50.
He aims to show that the therapy works, which could lead to FDA approval and make the drug available to all children with this rare disease.
If successful, the drug might be included in newborn screening programs within three to five years, ensuring that every child with SPG50 can access the treatment.
Elpida Therapeutics, working with the Columbus Children’s Foundation (CCF) and CureSPG50, is driving this effort.
Sheila Mikhail, co-founder of the CCF, emphasized their commitment to helping every child and addressing ultra-rare genetic disorders globally.
Terry frequently hears from families seeking help for their children. He highlights that the biggest hurdle in treating rare diseases is finding adequate funding and vision.
Despite having the technology, he hopes that wealthy individuals with the right vision will support this cause. Their help could impact not only SPG50 but many rare diseases and children.
With 40 million Americans living with rare diseases and one in ten potentially facing a treatable condition, Terry stresses that rare diseases could affect someone you know or love.
Watch as he received gene therapy for his rare disease two years ago through the efforts of his family:
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