Key points:
- 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 immunodeficiency syndrome, Activated PI3-Kinase delta syndrome (APDS), was discovered by researchers from several Cambridge-based research organisations and clinicians at Addenbrooke’s in 2013.
- Institute researchers contributed foundational knowledge about APDS, PI3-Kinase signalling and methodology central to the characterisation of APDS and the development of treatments.
As shared by Cambridge University Hospitals NHS Foundation Trust today, a teenager who lost family members including her mother because of a rare genetic hereditary illness, APDS, has become the first patient in the UK and Europe to have a new treatment approved for use on the NHS. This milestone follows the discovery of a rare, inherited immunodeficiency called Activated PI3-Kinase delta syndrome (APDS) by a team of Cambridge researchers in 2013.
APDS is a debilitating and life-threatening condition. People with APDS have a weakened immune system, making them vulnerable to repeated infections and autoimmune or inflammatory conditions, and at greater risk of developing blood cancers like lymphoma.
Mary Catchpole, 19, was given a newly licensed drug called leniolisib (or Joenja) at Addenbrooke’s Hospital in Cambridge. It is the first ever targeted treatment for APDS. Prior to this new treatment, the only treatments available to APDS patients include antibiotics for infections, immunoglobulin replacement therapy (to prevent infections and damage to organs) or a bone marrow or stem cell transplant….
Credit: The Babraham Institute