A father developed a drug to treat his son's rare disease, and now other families are seeking access to it.

A Canadian father was dismayed to discover that his infant son had a rare, fatal disease with no treatment or cure. Determined to help, he set out to create a treatment himself.

In Dec. 2017, Terry Pirovolakis, an IT director in Toronto, Ontario, welcomed his third son. Despite it being a "normal, healthy birth," he and his wife, Georgia Pirovolakis, noticed their baby, Michael, was not lifting his head within six months.

Pirovolakis stated that he didn't appear to be achieving his milestones.

After 18 months of medical appointments, physiotherapy, and genetic testing, a neurologist diagnosed baby Michael with spastic paraplegia 50 (SPG50), a rare neurological disorder affecting fewer than 100 people worldwide.

Pirovolakis stated that they instructed us to simply return home and love him, while also mentioning that he would become paralyzed from the waist down by age 10 and quadriplegic by age 20.

"It was predicted that he would never walk or speak and would require assistance for his entire life."

What is SPG50?

SPG50 is a neurological disorder that affects a child's development, resulting in cognitive impairment, muscle weakness, speech impairment, and paralysis, as per the National Organization for Rare Disorders.

By the time they reach their 20s, most people with the disease will have passed away.

Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor for Drugwatch, stated that children with SPG50 may experience early developmental delays, muscle weakness and spasticity, but they continue to strive and adapt.

As time passes, the symptoms can intensify, making it challenging for those affected to walk and carry out routine tasks, according to Penney, who did not participate in Michael Pirovolakis' treatment.

She stated that the prognosis varies among individuals, but it's typically a progressive condition, meaning symptoms can worsen over time.

Penney stated that without a cure, families can manage symptoms by utilizing physical therapy, occupational therapy, speech therapy, and medications to control spasticity or seizures.

To effectively manage SPG50, a holistic and interdisciplinary strategy is necessary to tackle its diverse manifestations and obstacles, as she emphasized.

A father’s mission

No FDA-approved treatment currently exists for SPG50.

Immediately after receiving his son's diagnosis, Pirovolakis began researching with the goal of discovering a gene therapy that could aid his son's treatment.

"They said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20."

Pirovolakis traveled to Washington, D.C., for a gene therapy conference a month after his baby's diagnosis. There, he met with several experts. Additionally, he visited Sheffield, England, and the National Institutes of Health at the University of Cambridge, where scientists were researching the disease.

Pirovolakis stated that we liquidated our savings, refinanced our home, and hired a team at the University of Texas Southwestern Medical Center to develop a proof of concept for Michael's gene therapy.

Pirovolakis collaborated with a Spanish drug company to produce the gene therapy after it proved effective in mice and human cells.

On December 30, 2021, Health Canada approved the gene therapy for Michael Pirovolakis.

Pirovolakis stated that on March 24, 2022, his son was the first individual to receive gene therapy at SickKids in Toronto.

The procedure of injecting cerebral spinal fluid through a lumbar puncture carries risks, but the potential benefits are life-saving.

‘I couldn’t let them die’

There were three doses left after Michael Pirovolakis received the one-time treatment.

Pirovolakis stated that it was necessary to assist other children.

"If no one was going to act, I knew I had to - I couldn't let them perish."

In the U.S., three children were treated in a Phase 2 study opened by Pirovolakis two years ago.

The youngest child to ever receive the treatment was 6-month-old Jack Lockard.

Since then, Jack has flourished, his mother, Rebekah Lockard, shared with Planet Chronicle Digital.

"He is working really hard on crawling while independently banging toys together and drinking from a straw cup."

Doctors and therapists concur that the treatment is effective.

Similar results have been experienced by other children who participated in the trial, Lockard stated.

"Their disease has halted in its progression, and their cognitive abilities have enhanced."

Despite the fact that there are more children who require treatment, including Lockard's first child, 3-year-old Naomi, who also has SPG50, the clinical trial has run out of funds and they are unable to access it, as previously reported by Planet Chronicle Digital.

‘Time is of the essence'

The cost of producing the drug for each child is approximately $1 million, according to Pirovolakis, while treating a patient in the U.S. at the hospital would amount to around $300,000.

Pharmaceutical companies have declined to manufacture the drug after Pirovolakis approached them.

"We want to make sure the trial moves on and these kids get treated."

""The dilemma we face is that no investor will provide funding for treating a disease that does not have the potential to generate profits," he stated."

The next phase of the clinical trial relies heavily on the parents to raise funds, while Pirovolakis and his team are focused on securing grants and investors.

Despite raising over $90,000 on GoFundMe for her daughter's treatment through the campaign "Naomi and Jack Battle SPG50," Lockard still needs more funds to cover the full cost.

The development of treatment for SPG50 is challenging and expensive due to its sporadic nature.

Pharmaceutical companies frequently prioritize treating larger populations, as it has a greater potential for recouping research and development costs, according to the doctor who spoke to Planet Chronicle Digital.

"Companies are less likely to invest in creating a treatment for rare diseases like SPG50 due to the smaller market size."

Pirovolakis left his job to focus on his cause and established a nonprofit in California with five employees and 20 consultants.

Elpida Therapeutics, named after the Greek word for "hope," will conduct a Phase 3 study for SPG50 at the NIH in November.

The lack of funding for therapies for children is due to the absence of major drug company support.

In the U.S., eight doses of the drug for SPG50 have been flown from Spain.

""The treatment is in the refrigerator, ready to be used, but there isn't enough money to make it happen," Lockard said."

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According to Pirovolakis, four families in the U.S. are currently attempting to raise the necessary funds.

""It's crucial that we proceed with the trial and ensure the children are treated," he stated."

The end goal

Pirovolakis aims to treat eight children with SPG50 in the upcoming Phase 3 clinical trial at the NIH.

If we demonstrate its effectiveness in all eight children and convince the FDA of its benefits, the drug will be approved and every child will have access to it.

If SPG50 is approved, it will be added to hospitals' newborn screening programs and every child with the disease will receive the therapy.

The Columbus Children's Foundation (Fundación Columbus in Spain) and CureSPG50 have partnered with Elpida Therapeutics to help save children with the disease.

"Our partnership with Elpida is motivated by a steadfast dedication to ensuring that no child is left behind," Sheila Mikhail, co-founder of the CCF, stated in a Planet Chronicle Digital interview.

"As a global organization, the Columbus Children's Foundation and Fundacion Columbus believe that every child deserves a healthy future. We are 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 receives numerous calls weekly from families worldwide seeking assistance in saving their children.

The biggest challenge in treating children with rare diseases is often due to insufficient funding and vision, as stated by him to Planet Chronicle Digital.

Someone with immense wealth, vision, and influence should step in to cure our children, he said.

"Their support could potentially affect a small number of diseases and a few children, but also provide hope to a large number of rare diseases and many children, not only in the present but also in the future."

One in 10 Americans will develop a potentially treatable rare condition, with 40 million already living with a rare disease.

Someone close to you may be impacted by a rare illness.