Teenager is first person in Europe to get wonder drug for rare genetic disorder

Telegraph

6 hours ago

A teenager who lost her mother, aunt and uncle to a genetic condition has become the first person in Europe to receive a 'life-changing' drug after it was approved for use on the NHS.
Mary Catchpole, 19, suffers from activated PI3-Kinase delta syndrome (APDS), a rare hereditary disorder that leaves people with a significantly weakened immune system.
Patients with APDS are susceptible to repeated infections, causing them to face a lifetime of antibiotics and invasive procedures to try to keep them well.
The maternal side of Ms Catchpole's family has been badly affected by APDS. Sarah, her mother, died aged 43 in 2018, while her aunt Helen died aged 12, her uncle Edward when he was 39 and her grandmother Mary when she was 48.
Now, thanks to researchers who identified APDS, Ms Catchpole has received a new drug to treat it at Addenbrooke's Hospital in Cambridge. The medicine, called leniolisib, or Joenja, is the first targeted treatment for APDS and is a tablet taken twice a day.
Researchers identified a change in genes that increased activity of an enzyme called PI3-Kinase delta, meaning this enzyme is effectively 'switched on' all the time. This prevents immune cells from fighting infection and leads to an abnormal immune function.
The new drug works by inhibiting the enzyme, effectively returning the immune system to its normal state.
Ms Catchpole, a teaching assistant who lives in Great Yarmouth, Norfolk, told the PA news agency: 'I was diagnosed with APDS aged seven and it's had a big effect on my life.
'I had lots of cannulas when I was younger and lots of hospital trips. I had a permanent line in the side of my body when I was younger which they put medicine in regularly at the hospital.
'I wasn't allowed to do very much physical activity so I had to sit out a lot in PE at school. I used to be called an attention-seeker because obviously it was hidden, so no one really believed me. It also stopped me from doing a lot of my dancing, which I've always loved to do. So it has been hard.'
Ms Catchpole said taking the new drug was 'life-changing' because it meant she could leave behind huge amounts of medication. She added: 'It's really a blessing, but it's also obviously bittersweet because my late family members never got the chance to have it.'
Discovering APDS
APDS was identified by Cambridge researchers in 2013, with Ms Catchpole's family playing a key role in the condition's discovery. Her mother and uncle were patients at Addenbrooke's and were offered DNA sequencing to see if there was a genetic cause for their immunodeficiency.
'I've always felt different so it will be nice to feel like I belong,' she said. 'To be able to feel normal going about my day-to-day life is going to be really nice.'
Until now, the only treatments for APDS patients were antibiotics for infections, immunoglobulin replacement therapy to prevent infections and organ damage, and a bone marrow or stem cell transplant.
Experts believe the drug will work long-term in patients as long as they keep taking the tablets. Researchers are now looking at the potential for Joenja to work on other, more common immune conditions.
Patients eligible for Joenja can be referred to Addenbrooke's for a review and specialist care. Between 40 to 50 people in England are known to have APDS.
The price for leniolisib is listed at £352,000 per person per year, but the company Pharming has agreed to a discount for the NHS.
Changing lives
Dr Anita Chandra, consultant immunologist at Addenbrooke's and affiliated assistant professor at the University of Cambridge, said: 'It is incredible to go from the discovery of a new disease in Cambridge to a treatment being approved and offered on the NHS within the space of 12 years.
'This new drug will make a huge difference to people living with APDS.'
Prof Sergey Nejentsev, from the University of Cambridge who led the research, said: 'As soon as we understood the cause of APDS, we immediately realised that certain drugs could be used to inhibit the enzyme that is activated in these patients.
'Leniolisib does precisely that. I am delighted that we finally have a treatment which will change the lives of APDS patients.'
Prof James Palmer, NHS England's medical director for specialised commissioning, said: 'This treatment could be life-changing for those affected by this debilitating genetic disorder, and this important step forward is another example of the NHS's commitment to offering access to innovative medicines for those living with rare conditions.'
The team that discovered APDS included researchers from the University of Cambridge, Babraham Institute, the Medical Research Council Laboratory for Molecular Biology, and Addenbrooke's, with funding from Wellcome and the National Institute for Health and Care Research.