Article type:
News
Estimated read time:
2 mins min read
Published:
28/06/2025
A teenager has become the first patient in the UK and Europe to receive a targeted treatment for a rare, inherited immunodeficiency called Activated PI3-Kinase delta syndrome (APDS), which was responsible for the death of several of the patient’s relatives. As shared by Cambridge University Hospitals NHS Foundation Trust, Mary Catchpole, 19, was given a newly licensed drug called leniolisib (or Joenja) at Addenbrooke’s Hospital in Cambridge.
The syndrome has significantly impacted Mary’s family on her mother’s side. Her aunt died aged 12, while her mother, uncle and grandmother all died in their 30s unt died aged 12, while her mother, uncle and grandmother all died in their 30s and 40s. Mary’s mother and uncle, who were Addenbrooke’s patients, played a key role in the discovery of ADPS in 2013.
They were offered DNA sequencing to see if there was a genetic cause for their immuno-deficiency. Cambridge researchers identified a change in their genes that increased activity of an enzyme called PI3-Kinase delta, resulting in the illness being named Activated PI3-Kinase delta syndrome (APDS). With APDS, the enzyme PI3-Kinase delta is ‘switched on’ all the time, preventing immune cells from fighting infection and leading to severe, recurrent respiratory infections.
Mary said: “All my life I’ve had to have weekly infusions which make me feel like a pin cushion, and I’ve had to take lots of medication which has been tough.
“Now that I have this new treatment, it does feel bitter-sweet as my late mum and other affected members of my family never got the chance to have this new lease of life, but it is a gift. I feel blessed.”