This month we have four updates for you about the (upcoming) assessment of various new medications; one from Northern Ireland, and three from England.  

If you find yourself wanting explanations of the updates or needing a listening ear, you can reach out to us via 0800 652 3181 or email us at contact@metabolicsupport.org.  

Efzimfotase alfa, also known as ALXN1850, for treating hypophosphatasia in people 2 years and over was identified by NICE in England as a potential new treatment to be assessed in September last year. Timelines for this assessment have now been clarified, with the assessment expecting to commence in June 2027.  

Further details can be found on the NICE website: https://www.nice.org.uk/guidance/awaiting-development/gid-ta11838  

 As announced earlier this month, we are pleased to share that after almost a decade of work together with Cystinosis Foundation UK, and more recently, Kidney Research UK , mercaptamine for the treatment of nephropathic cystinosis will now also be available in Northern Ireland and England. This means mercaptamine is now available across all four nations in the UK, ending access inequality and creating choice for families.  

Further details and our announcement can be found here:  

Northern Ireland: https://ipnsm.hscni.net/red-amber/ 

England: https://www.england.nhs.uk/publication/clinical-commissioning-policy-delayed-release-mercaptamine-bitartrate-for-patients-with-nephropathic-cystinosis-age-1-years/ 

Our announcement: https://metabolicsupport.org/news-and-events/latest-news/patients-and-families-with-cystinosis-in-england-to-access-to-life-changing-treatment-procysbi/  

As reported in November last year, Doxecitine–doxribtimine for treating people with thymidine kinase 2 deficiency at any age was unfortunately paused by the developing company. NICE have informed us that this assessment remains paused. In the meantime, we understand that the company has applied for and been granted an early access to medicines scheme, through which people with TK2d will get temporary access, while the company is collecting further data. We will provide an update on EAMS shortly.  

Further details can be found here:  

https://www.nice.org.uk/guidance/indevelopment/gid-hst10063 

https://www.gov.uk/government/publications/doxecitine-and-doxribtimine-in-the-treatment-of-thymidine-kinase-2-deficiency-tk2d