Father creates drug to treat son's 'incurable' rare neurological disorder: 'I couldn't let him die'

A father has developed a new drug to treat his young son's slow progressing neurodegenerative disorder. 

Terry Pirovolakis, 44, received regulatory approval for the clinical treatment this past December - first, in hopes of saving the life of his six-year-old son, Michael, and now to help all affected by the rare disease, Fox News reported.

Spastic paraplegia 50 (SPG50) affects children's development, leading to cognitive impairment, muscle weakness, and paralysis over the course several years. Affecting fewer than 100 worldwide, the disease often ends in death, usually before a patient reaches 30.

Such a fate awaited Michael before his dad, an IT director in Toronto, Canada stepped in. He emptied his life savings to start researching potential cures rooted in gene therapy, reading countless journals on the subject.

Meeting with experts as well, he soon signed a contract to start a gene therapy program, consisting of injecting cerebral spinal fluid into the patient's back. After years of lab work, the treatment started to take, and on December 30, 2021, the government moved it forward.

Terry Pirovolakis, 44, received regulatory approval for the clinical treatment this past December - first, in hopes of saving the life of his six-year-old son, Michael, and now to help all affected by the rare disease

The rare disease affects children's development, leading to cognitive impairment, muscle weakness, and paralysis over the course several years

'On March 24, 2022, my son was the first person to ever get treated with gene therapy at SickKids in Toronto,' Pirovolakis, a father of three, told Fox News in detailing his medical odyssey.

'They said he'd never walk or talk, and would need support for the rest of his life,' he recalled of the 2018 diagnosis. 

'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 continued. 

'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.'

This all happened within the span of a month, the doting dad said - recalling how he flew to Washington, D.C., for a gene therapy conference and met with several experts. 

He then went overseas, visiting the National Institutes of Health at the University of Cambridge, where scientists have been studying the disease.

After months of testing, Pirovolakis and the experts he enlisted saw some success - with the therapy seen stopping the debilitating disease's progression in mice and human cells.

Pirovolakis went on to work with a small drug company in Spain to manufacture the drug, which is injected directed into the patient's spine - paving the way for the procedure to one day become commonplace.

Pirovolakis realized the disease was slowly affecting his son a year and half after he was born, when he saw he was having difficulty lifting his head

When his son was diagnosed in 2018, Pirovolakis was told the boy would be paralyzed from the waist down by the age of 10 and quadriplegic by the age of 20. Georgia Pirovolakis is seen here with her son

He also detailed how the disease was slowly stealing his son's movement for the first year and half of his life, and how he only realized something was amiss when he noticed Michael was having difficulty lifting his head.

It took months of doctors' appointments, physiotherapy, and even genetic testing to discern the cause - a process he billed as an '18-month diagnostic odyssey' predating his quest for a cure.

Time was of the essence for him and Michael, however, as those stricken with SPG50 more often than not die by the time they reach their 20s.

'The prognosis varies from person to person, but it's generally a progressive condition, meaning symptoms can become more severe over time,' Texas Department of State Health Service epidemiologist Eve Elizabeth Penney told Fox News.

'Over time, these symptoms can worsen, making it hard for affected individuals to walk and perform daily activities,' she added.

Since there is no cure currently, families are forced to manage symptoms through a combination of physical, occupational, and speech therapy, along with medications designed to lessen side effects like seizures.

In the US currently, there is no treatment for SPG50 that is approved by the Food and Drug Administration.

Now six, the boy is showing signs of improvement, his father said - though the treatment remains costly

In Canada, Michael was the first to receive his father's one-time treatment, after Pirovolakis quit his job and started a nonprofit in California to devote himself to the cause.

The company - named Elpida Therapeutics, after the Greek word for 'hope' - now has five employees and 20 consultants, with Michael now on the mend.

Since being treated, the youngster's condition seems to have stabilized, his dad said. Michael is now able to use a device to communicate with his family and caregivers

The same can be said for three others who were able to receive the remaining doses from Pirovolakis' first batch, as the drug still costs about $1million to make for each child.

'When I heard that no one was going to do anything about it, I had to - I couldn't let them die,' Pirovolakis said. 'We decided that we had to help other kids.'  

Pirovolakis opened a Phase 2 study in the U.S., which treated the three children in 2022.

Among them was 6-month-old Jack Lockard, whose mother, Rebekah Lockard, told Fox News that the treatment works.

'Jack has thrived since then,' said the mom of two, whose other child, 3-year-old Naomi, has the disease as well, said.

Pirovolakis opened a Phase 2 study in the U.S., which treated the three children in 2022. Among them was 6-month-old Jack Lockard, seen above in the lap of mom Rebekah Lockard

'He is sitting independently, banging toys together, drinking from a straw cup and working really hard on crawling.'

'Doctors and therapists share the same sentiment,' she added. 'The treatment works!'

Despite it being approved, big pharmaceutical companies have been slow to manufacture the drug, with several firms rejecting the prospect when proposed, Pirovolakis said

'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.' 

As he searches for grants and investors, parents are forced to pay out of pocket.

'The treatment is here, just literally sitting in a refrigerator, ready to go,' Lockard said, as the drug is now poised to undergo clinical trial at the National Institutes of Health.  

 'Doctors are ready. There just isn't enough money to make it happen.' 

Pirovolakis said 'time is of the essence,' noting that eight doses have already been flown to the US. 'We want to make sure the trial moves on and these kids get treated.'  

Pirovolakis - seen here with his family - will now see his drug undergo a clinical trial at the National Institutes of Health, as big pharmaceutical companies have been slow to sign off on making the drug

'We were told he would never speak or walk, and that he will have severe developmental delays. I just couldn't accept that fate for my child,' Pirovolakis said of his son

Pirovolakis said that when his son was diagnosed, he was told the boy would be paralyzed from the waist down by the age of ten and quadriplegic by the age of 20.

'We were told he would never speak or walk, and that he will have severe developmental delays. I just couldn't accept that fate for my child,' he said.

'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.'   

The Phase 3 study for SPG50 will be conducted at the National Institutes of Health in November.