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RARE REV-inar episode 006

RARE REV-inar episode 006: Gene therapy: A new age of care in rare diseases?

Gene therapy: A new age of care in rare diseases? RARE REV-inar 006 originally broadcast on Tuesday 25th April 2023 10am BST. Sponsored by CSL.

In April 2023 RARE Revolution hosted a RARE Rev-inar, sponsored by CSL Behring UK, to discuss the impact and potential of gene therapies. The session featured the experienced voices of advocacy leaders and industry experts

By Geoff Case

There are many thousands of rare conditions, perhaps 10,000 or more.1 Individually these are, of course, rare, but collectively they are common, with approximately 1 in 17 people believed to be affected—approximately 3.5 million people in the UK alone. Most (approximately 80%) of the diseases affecting the rare disease community are genetic,2 and only 5% have any treatment available: 95% do not.3 In both groups there is excitement about the benefits that gene therapies might deliver in the future.

Gene therapies, Matthew Durdy explains, are “medical interventions that aim to change the genetic information of an individual in order to induce an enduring therapeutic outcome”. For conditions that do have treatments, a gene therapy that produces an enduring effect might mean a patient has “a better overall life and perhaps less requirement for medical intervention, and fewer complications,” he says.

Dan Betts acknowledges that the newness of this technology means “we shouldn’t lose sight of the fact that there are uncertainties around long-term safety and efficacy” and says that there are also regulatory, reimbursement and access hurdles to overcome. Still, the ramifications for the rare disease community are potentially enormous. Nicola Redfern says: “We are looking at treatments that could potentially be curative, or if not, extend life expectancy, and/or significantly improve quality of life.” As Samantha Barber explains, “gene therapies give the community hope for the future.”

Jefferson Courtney believes that gene therapies might also bring economic benefits to society in general. Even conditions that have treatments available, such as bleeding disorders, have “a very big impact on the health system”, he says: providing “a very different kind of care to what’s normally expected from the system” comes at a high cost. “Patients need a very wide multidisciplinary team that isn’t just treating the condition itself but the other things that go with it—physiotherapists, obstetricians, gynaecologists, dedicated labs, specialised nurses, specialised consultants…”

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