Podcast recap: Terry Pirovolakis on turning his son’s diagnosis into Elpida Therapeutics
On the most recent episode of The Genetics Podcast, we hosted Terry Pirovolakis, founder and CEO of Elpida Therapeutics. Terry’s journey began the day his young son Michael was diagnosed with SPG50, an ultra-rare disease with no available treatments. Faced with a devastating prognosis, Terry raised millions, learned about science and biotech, and built a team to create a gene therapy – all in under 3 years.
From diagnosis to action
After his son’s diagnosis, Terry rapidly switched gears and learned all he could about cell biology and genetics. With a background in IT, this was a daunting task. He audited a cell biology course to get oriented, then taught himself the specifics he needed one milestone at a time.
A month after diagnosis he went to the American Society of Gene and Cell Therapy (ASGCT) meeting. Several people pointed to Dr. Steven Gray as the right scientific partner. Terry approached Gray and secured his commitment. That relationship anchored the program and set the expectation that the work would serve the whole community, not only Michael.
Building the team and the plan
With Gray leading on science, Terry assembled a core team across toxicology, Chemistry, Manufacturing, and Controls (CMC), and regulatory. He sought mentors who had built rare disease programs before and relied on their practical advice to avoid dead ends. The plan was built around clear dependencies and aggressive but disciplined overlap. Where it was safe and justified, workstreams ran in parallel to save time.
Preclinical efficacy progressed alongside toxicology. Manufacturing moved forward while animal studies read out. The team did not skip safety steps. They accepted the financial risk that some lots might be discarded if the data did not support dosing. That trade allowed the timeline to compress without compromising on patient safety.
Funding and community support
Terry's family began by liquidating their own savings and community support then became the engine. Thousands of small donations on GoFundMe and countless community events, from lemonade stands to bowling events, represented the bulk of the funding. Large donations from philanthropists covered the rest.
From one child to global access
Michael received the first dose in March 2022 at SickKids Hospital. A phase 1–2 trial then opened in Dallas, followed by compassionate use in Spain. To date, nine children have been treated across North America and Europe, with more sites opening in Denmark, Italy, Dallas, and Barcelona.
The aim is to reach every known patient who can benefit. That requires additional manufacturing, more trial sites, and regulatory pathways that fit ultra-rare populations. Terry is working to standardize playbooks across countries so families do not have to start from zero.
The scaling problem
SPG50 affects roughly 100 people worldwide. Programs at this scale are not commercially viable under current rules. After the first treatments, Terry tried to hand the program to larger groups at no cost. Interest was limited because the target population is small and the cost to reach commercial grade production is high.
To keep going, Elpida Therapeutics pivoted to a mixed model. The nonprofit effort continues for development and patient access, while a consulting arm funds salaries by helping other teams reach IND and early clinical milestones. Philanthropy and grants fill the remaining gaps. It is a practical structure for a difficult market.
Where costs really sit
Manufacturing and CMC validation drive a large share of total cost. Moving from clinical grade to commercial grade requires extensive characterization and validation runs. Each parameter must be locked and proven at scale, and each run consumes time and budget.
Even before commercialization, a single patient can cost more than a million dollars when drug supply, hospital procedures, and study operations are combined. Families cannot carry that burden. Sustainable access requires approvals so that payers and public systems can reimburse treatment and support newborn screening.
Regulatory pathways and endpoints
Ultra-rare programs rarely fit a rigid phase 1, 2, 3 sequence. The practical path is to start with a small first-in-human study, expand carefully to more patients, and then gather confirmatory evidence that the treatment changes the course of the disease. For slowly progressive conditions, the key difficulty is selecting endpoints that can change on a reasonable timescale.
Cognition, daily function, and caregiver reported outcomes are important and consistent, while measures like spasticity can vary hour to hour and are harder to interpret. Regulators have been open to discussion on fit for purpose endpoints, but programs still need statistical evidence alongside patient stories.
Safety, data sharing, and risk
More gene therapy trials mean more reported adverse events. Terry’s view is that informed and careful risk management is essential, especially for fatal or severely disabling diseases, and that the field needs better sharing of safety data. Families and teams can then make decisions with a clearer understanding of risk.
He argues for policies that do not punish teams for compassionate use in advanced cases when the risk benefit supports it. The goal is to protect patients while learning quickly and responsibly. Transparent data helps everyone calibrate dosing, immunomodulation, and eligibility.
Choosing the right modality
For SPG50, gene replacement was the most practical route. The antisense oligonucleotide route was not suitable for a nonsense mutation, and small molecule screening did not yield a viable option that reached the brain with adequate safety. Vector choices will broaden as new delivery systems mature.
Across the Elpida Therapeutics pipeline, the team evaluates gene replacement, gene editing, lipid nanoparticles, and receptor targeted vectors program by program. Gene replacement is often preferred when a single construct can serve many variants across a gene. Editing will be important for specific scenarios where replacement is not feasible.
What helps now
Policy tools like the pediatric priority review voucher mattered for financing ultra-rare programs. The lapse in renewal has reduced available capital and increased uncertainty. Terry is hopeful that renewal will return, given broad support across administrations, but timelines are unclear.
In the meantime, practical help comes from communities, donors, and partners who can fund batches, cover hospital costs, or sponsor sites. Just as important are volunteers who run local events, amplify awareness, and support families directly. Small actions add up when there is a clear plan and a team ready to execute.
Looking ahead
Terry expects the next few years to remain hard for financing. He believes progress will come from steady approvals, better manufacturing yields, and diversified delivery technologies. As more programs reach the clinic, costs should come down and access should improve.
The long term vision is early diagnosis and early treatment. If newborn screening can identify affected infants and supply chains can deliver a dose within weeks, outcomes could move from partial stabilization toward near normal development. Getting there requires calculated risk, shared learning, and policies that recognize the realities of ultra rare disease.
Listen to the full episode below.