First patient in Europe receives treatment for rare genetic condition
Mary Catchpole, 19, has become the first person in Europe to receive leniolisib (Joenja), a new drug approved for use on the NHS to treat activated PI3-Kinase delta syndrome (APDS).
APDS is a rare inherited disorder that significantly weakens the immune system, making patients vulnerable to recurrent infections; Mary's family has been severely impacted, with four members, including her mother, dying from the condition.
The new medicine, a simple tablet taken twice daily, is the first targeted treatment for APDS and works by inhibiting an overactive enzyme identified by Cambridge researchers in 2013.
Mary described the drug as "life-changing", allowing her to reduce extensive medication and look forward to a more normal life, including pursuing her dream of becoming a dance teacher.
Experts believe leniolisib will make a huge difference to APDS patients, with researchers now exploring its potential application for other, more common immune conditions.
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