Issue 223
“The only thing that was impossible to do was nothing.” These are the words of Terry Pirovolakis, CEO of Elpida Therapeutics and father to Michael, a young boy who was diagnosed with an ultra-rare hereditary disease called spastic paraplegia 50 (SPG50) in 2019. He told me his story at the Veeva R&D and Quality Summit in Madrid, explaining that the condition is characterized by early infantile hypotonia, developmental delay, intellectual disability, and was, for some time, considered incurable.
Terry refused to accept that his son couldn’t be helped, spending the following four years of his life in search of a breakthrough gene therapy. He attended major gene therapy conventions across the US, putting up “wanted” style posters with a picture of his son, and established a GoFundMe page that would go on to raise more than $3 million in donations. He even took on a grueling solo 450-kilometer bike ride that ended with an in-person meeting with Canadian Prime Minister Justin Trudeau to bring awareness to the plight of his son and other families fighting to cure their children’s rare disease.
Eventually, his efforts were rewarded with a gene therapy prototype that proved to be a success in animal lab models. Michael would then become the first person to successfully receive the therapy intended to treat the disease on March 24, 2022. And though it hasn’t totally “cured” him, the treatment effectively halted the progression of SPG50’s development. Terry told me that his family now lives a much happier life – free of the stresses they faced just four years earlier.
It wasn’t long after Michael received the therapy that Terry established Elpida, which comes from the Greek word “hope” and was the driving force behind MELPIDA (Michael’s Hope). His new mission is to save as many children suffering from a rare disease as humanly possible by bringing gene therapy programs from proof of concept to BLA approval across the globe, operating as a non-profit organization.
Do you know of anyone that could benefit from Terry’s mission – or have you heard a similar story? Drop me a line: [email protected].
Until next week,
Jamie Irvine | Associate Editor
Essential Reading
The sound of therapy
A gene therapy designed to target a form of inherited deafness caused by mutations in the OTOF gene restored the hearing of five children who were treated in both ears, a new study shows. The trial, led by investigators from Mass Eye and Ear, and from Eye & ENT Hospital of Fudan University Shanghai, also showed that children treated using the AAV1-hOTOF gene therapy gained the ability to determine locations that sounds came from and had improved speech perception in noisy environments. As it stands, this is the first and only trial to provide gene therapy for this form of inherited deafness to children in both ears, and the newly reported results demonstrated additional benefits to those observed in the first phase of the trial when children were treated in one ear. The researchers now hope to expand their work internationally.
Pfizer’s hemophilia therapy
The European Medicine Agency has recommended granting conditional marketing authorization for Pfizer’s Durveqtix – a gene therapy for hemophilia B in adults who do not have factor IX inhibitors and no detectable antibodies to variant adeno-associated virus serotype Rh74 . The condition itself is caused by a lack of coagulation factor IX. Without it, affected patients bruise easily, bleed more frequently, and do so for longer periods of time. Today’s current therapeutic avenues require frequent intravenous infusions to prevent or treat bleeding, which makes Durveqtix – a one-time infusion – particularly promising for the future treatment of the condition.
Worth Your Time...
Business
Applied Cells launches MARS Ingenuity reagent kits to support immunomagnetic cell isolation and overall cell therapy development.
Alliance for Regenerative Medicine shares considerations for cell and gene therapy companies contemplating foreign direct investment in Japan.
Sphere Fluidics introduces Cyto-Cellect PLUS to accelerate cell line development and quantify IgG production in single cells.
Research
Researchers show that human primary T cells can be activated, transduced and expanded to high densities in closed-system microfluidic bioreactors to produce viable anti-CD19 CAR T cells.
Study demonstrates that producing CAR-T cells using berbamine enhances the antitumor efficacy of CAR-T cells.
Scientists highlight the therapeutic importance of extracellular vesicle secretion in regenerative cell therapies and suggest that selecting cells based on such secretion could improve therapeutic efficacy.
