Michael Pirovolakis
If you’ve watched the 1992 movie Lorenzo’s Oil, based on the true story of parents searching for a treatment for their son’s rare neurological disease, adrenoleukodystrophy (ALD), then the real-life story of the Pirovolakis family might feel familiar.
The Pirovolakis family lives in Toronto, Canada. In 2017 their son Michael was born and later diagnosed with spastic paraplegia (SPG50), a rare neurodegenerative disorder that affects fewer than 100 cases around the world. Not willing to accept their son’s fate of paralysis and moderate to severe intellectual disability with little to no speech, they spent three years fundraising to raise the $3 million required to develop and test a treatment.
This graphic, provided by the family, shows their journey from bench to bedside.
With sheer determination, unwavering commitment and generous support from the public, they achieved their financial goal. But if you think it only takes $3 million to develop a treatment and bring it to market, you are about to be shocked.
Terry Pirovolakis, Michael’s father, says the medical facilities his family worked with donated the equivalent of $7-10 million in time and materials. And, “If we didn’t get the donated help and material from medical facilities, the cost would have been well over $25 million,” he said in an interview with the The Jackson Laboratory (JAX), which supported the family with genetically engineered mice to match the mutations required by the researchers, and offered rare disease expertise.
These are the institutions and companies that helped the Pirovolakis family (“CURE SPG50”) develop a treatment for Michael
One year ago (March 2022), Toronto’s Hospital for Sick Children (SickKids) injected a normal version of the gene Michael is missing into his spinal fluid to reach his brain. He is the first recipient of this therapy in a clinical trial for one. According to SickKids, once the treatment was developed, doctors and researchers “sprang into action” to open a clinical trial. They had never before conducted a gene therapy clinical trial for only one patient. When Health Canada gave the approval, Michael received his treatment. If it proves to be successful, we could see more personalized gene therapies in the future – good news for the estimated one million Canadians and 25-30 million Americans living with a rare disease.
As I’ve written before, families often have to lead the charge to get a treatment for a rare disease.
In the U.S., when fewer than 200,000 people have a disease or condition, it is considered rare. That makes new product development an unattractive proposition for most pharmaceutical companies that need to recoup the 10s of millions required to commercialize them. But as Terry Pirovolakis said to JAX, “There are models in places like France and the Netherlands where rare diseases are cataloged and knocked out with government funding one by one. If that doesn’t seem like a lot at a time, imagine if the US government decided to cure a handful a year. We have the technology and know-how to make sure we never see these diseases again, we just need the funding.”
Despite traveling around the world to speak to researchers and governments, and to attend medical and gene therapy industry conferences, Terry Pirovolakis isn’t waiting for others to solve the problem of funding rare disease research. He has formed a company, currently in stealth mode, to take five gene therapies to the clinic. Having done as much as he can to help Michael, he now wants to help other children living with rare diseases.
I met Terry earlier this week and heard his inspiring story. It reminded me of another family that has turned its experience into a call to action to help other children.
Terry’s company is merging industry and philanthropy. It is working with partners at every step of the development process to help underserved populations of children with ultra-rare diseases of the central nervous system. Their goal is to have five programs in the clinic within three years, with each program supporting 8-12 children. They already have one in the clinic and a second is about to begin toxicology manufacturing.
“Given the history of biotech companies retracting from rare disease programs and shelving other programs, we are confident in our ability to access a pipeline of future potential programs,” says Terry Pirovolakis. “We believe our social purpose corporation model allows us to balance re-investment into more programs and [provide] equitable and fair access to therapeutics for disease indications with very small patient populations.”
Good luck to Terry, but judging from his track record so far he might not need it.
Learn more about Michael’s story here.
Stacey Johnson
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