Drug produced by Spanish pharma company key in Canadian family’s search for life-saving therapy

A Canadian family that embarked on an incredible journey that’s taken them to the USA, the UK, and Spain to find a cure for their newborn son’s rare disease has paved the way for a new, breakthrough treatment.

A Canadian family from Toronto embarked on a remarkable journey to find a cure for their newborn son’s rare disease. After their third son, Michael, was diagnosed with spastic paraplegia 50 (SPG50), a neurological disorder affecting fewer than 100 people worldwide, the Pirovolakis family faced a devastating prognosis.

Determined to save their son’s life, Terry and Georgia Pirovolakis poured their life savings into researching and developing a potential treatment. Their unwavering compassion and determination led them to create a medicine that could not only help their son but also benefit others suffering from the same condition.

A Father’s Determined Quest for a Cure

Despite the lack of available and approved treatments for SPG50, Terry Pirovolakis remained determined to find a cure for his son’s disease. Following Michael’s diagnosis, Terry embarked on a journey that took him to Washington D.C., the University of Cambridge– where scientists were already researching the condition- and ultimately to Spain.

The family liquidated their life savings, remortgaged their home, and paid a team at the University of Texas Southwestern Medical Centre to develop a ‘proof of concept’ to begin Michael’s gene therapy.

Through extensive research and collaboration with medical experts, Terry secured funding to develop a gene therapy treatment. The therapy successfully halted the progression of SPG50 in mice and human in vitro cells, offering hope for a potential cure.

Search for a Cure Extended Onward to Spain

The family finally ended up in Spain, where a small pharmaceutical company agreed to make four doses of the gene therapy drug that could be the key to Michael’s recovery.  

After receiving approval from Health Canada, the Pirovolakis family proceeded with Michael’s gene therapy treatment. In March 2022, at the age of five, Michael became the first person with SPG50 to undergo this groundbreaking procedure.

Following the treatment, the Pirovolakis family witnessed significant improvements in Michael’s movement, coordination, and speech. The doctors were unanimous in their assessment that the gene therapy had been a success.

Initially, the family planned to reserve the remaining three doses for potential future use if the disease progressed. However, after learning about other children with SPG50, they decided to donate the remaining doses to help others affected by the condition.

This selfless decision further highlights the Pirovolakis family’s commitment to finding a cure for SPG50 and improving the lives of others affected by this rare disease.

Other Children with Same Condition Thriving after Gene Therapy Drug

Terry Pirovolakis’s determination led him to establish Elpida Therapeutics, a company dedicated to developing treatments for rare diseases. His journey began with a phase 2 trial that treated three children with SPG50, resulting in positive outcomes.

Despite the high costs associated with drug development, Terry’s commitment to finding a cure for SPG50 has driven him forward. He has approached multiple pharmaceutical companies with the trial results, but the small market size and associated costs have deterred potential investors.

Elpida Therapeutics is now preparing for a phase 3 trial at the NIH in November. However, the company faces financial challenges, having exhausted their funds after securing eight doses of the drug from Spain.

GoFundMe Set Up for More Children to Take Part in the Trial 

Other families with children who suffer from the condition are also facing an uphill struggle to get access to treatment. “The treatment is here, just literally sitting in a refrigerator, ready to go,” Rebekah Lockard, Jack’s mother, whose daughter Naomi also has SPG50 and is a candidate in the prospective trial. “Doctors are ready. There just isn’t enough money to make it happen.”

The Lockards have set up a GoFundMe page to raise money to take part in the clinical trial and get Naomi one of the crucial eight doses. At the time of publication, it has raised a little over $140,000 of the $1,000,000 target.

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