Drug for rare disease brings 'joy and hope'

Not only is Mary the first patient to benefit from the drug but her family played a key role in research leading to the discovery of the ultra-rare condition.

APDS was identified in 2013 by researchers at the University of Cambridge and clinicians at Addenbrooke's hospital who found a faulty gene carried by several members of Mary's family.

Dr Anita Chandra, consultant immunologist at Addenbrooke's Hospital 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."

Mary is rethinking about how she will live in future: "I want to go on more adventures and take risks because all I've ever known is medication, needles, and hospital appointments, whereas now I can find out who I truly am."

The faulty gene is carried on the maternal line so there is a 50:50 chance it will be passed to affected women's children.

Mary said she would like to become a dance teacher, while continuing her work as a teaching assistant. She said she had been cautious around people because of the risk of infection but no longer felt scared.

Prof Sergey Nejentsev from the University of Cambridge who led the research that discovered APDS 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."

Leniolisib has a list price of £352,000 a year, but was approved as cost effective by the health regulator NICE after the NHS negotiated a substantial, confidential discount.

NICE estimates the drug could benefit up to 50 patients over the age of 12 in England.

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."

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