National Institute for Health and Care Excellence (NICE) meeting
In October 2024, Susan, our CEO, and Sophie (pictured left with son Jasper) were patient experts at a National Institute for Health and Care Excellence (NICE) meeting assessing the clinical effectiveness and value for money of the drug Leniolisib, as a treatment for the rare primary immunodeficiency called activated phosphoinositide 3-kinase delta syndrome (APDS).
Sophie, mum to Jasper who has APDS, shared her firsthand experience of the condition’s impact on her child and herself as a carer. The committee considered our testimony, survey findings, consultation response, and the opinions of clinicians and APDS experts in their draft guidance published in October 2024. Disappointedly, NICE‘s draft guidance did not approve the availability of Leniolisib for use in the NHS. In December, we were given a chance to give further input and were involved in a second NICE evaluation committee meeting on the 6th of February 2025.
In March 2025 The National Institute for Health and Care Excellence (NICE) recommended Leniolisib, for treating the rare primary immunodeficiency, activated phosphoinositide 3-kinase delta syndrome (APDS). Leniolisib is made by Pharming, and it is the first-ever treatment for activated phosphoinositide 3- kinase delta syndrome (APDS) licensed for NHS use in England and indeed in Europe. Currently, the recommendation is for Leniolisib to be available for people aged 12 years and over.
We give huge thanks to Sophie for her involvement in this vital advocacy work for those affected by APDS.
A new treatment for WHIM Syndrome
Susan, CEO, met with the company Norgine in January 2025 to discuss bringing mavorixafor, a new treatment for WHIM Syndrome, to the UK and Europe. This was an early conversation to introduce our respective organisations to consider how we might work together in the interests of people affected by this condition.
