Reflections of a fireside chat from the World Orphan Drug Congress 2020

Written by Trish Shepherd on Wednesday 9th September 2020

From junior doctor to gene therapy CEO, how one person’s drive to make rare disease curable is shaping the future of medicine.

It was a truly touching story to hear Dr Gaspar recant his early days working with young, severely immunocompromised patients at Great Ormond Street. Dr Gaspar knew that most of his patients would die within their first year without any therapy. Although bone marrow transplantation was an option for some patients, it was not without risk of complications.

The power of one

Dr Gaspar was first told of a single patient candidate for gene therapy while doing his rounds in 1993. He was initially convinced it was a Senior Doctor prank on a trainee, but as the years passed Dr. Gaspar saw that one patient return to the hospital with a fully healthy immune system and he was inspired to return to the lab to explore. And he did. In 2001, he went on to test the innovations he and his colleague were exploring in human clinical trials. The success these approaches received garnered much interest: first beyond the academic setting and then across regions and continents. The next step was clear - a commercial entity was needed to deliver more solutions to more people.

The result was Orchard Therapeutics, a company dedicated to setting up a process that enables the treatment cells to travel so that patients, who are already living with debilitating diseases, do not have to. As a business, Orchard Therapeutics want to introduce as many therapies as possible and, in order to enable a broader reach, are eager to work with regulators to explore reimbursement models from single payments, to annualised payments or payment by results.

An unbeatable moment

When asked what it is like as a clinician to see this level of success, Dr Gaspar replies that there is nothing more rewarding than treating a patient with a therapy that you have created – it is, truly, an unbeatable moment. 

Dr Gaspar has now moved on from his clinical duties to focus fully on his CEO responsibilities at Orchard Therapeutics, but remains certain that the options for clinicians when faced with rare genetic disease diagnoses, such as Severe Combined Immune Deficiency (SKID) and Metachromatic leukodystrophy (MLD), are different. The conversations with the families of patients will be entirely more positive in light of the new available options. The face of the disease is, thanks to Dr Gaspar and his colleagues’ work, now permanently changing for the better. 

From this fireside chat, you can see the desire to introduce more curative therapies still burns bright.

Discovering the moments that matter most to patients and families

Here at OPEN Health Patient & Brand Communications we pride ourselves on our deep understanding of the patient experience in rare disease and have significant expertise in consulting on the delivery of innovative treatments in complex treatment pathways, as well as providing niche patient support platforms to help patients and their families better understand novel treatments.

If you’d like to learn more, we’d love to hear from you and look forward to working together to help introduce more novel therapies to the people that need them most.


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