We have six updates for you this April, including new details of those assessments initiated in March.  

If you find yourself wanting explanations of the updates or needing a listening ear, you can reach out to us via08006523181 or email us at contact@metabolicsupport.org.  

As shared last month, the assessment of Elamipretide for treating Barth syndrome in people of any age was started by NICE in England this March. Barth Syndrome UK, with support from Metabolic Support, responded to the scoping consultation; and Barth Syndrome UK attended the scoping meeting organized by NICE this April. We will be providing updates for this assessment as they become available. 

Further details about the assessment can be found here: https://www.nice.org.uk/guidance/indevelopment/gid-ta11719

The assessment of Leriglitazone for treating cerebral adrenoleukodystrophy in boys and men 2 years and over by NICE in England has restarted, with the consultation on suggested remit, draft scope and provisional stakeholder list initiated end of March. We will be providing updates for this assessment as they become available. 

Further details about the assessment can be found here: https://www.nice.org.uk/guidance/indevelopment/gid-ta11445 

Afamelanotide for Prevention of phototoxicity in adult patients with erythropoietic protoporphyria is expected to be reassessed by SMC in Scotland this year, under its ultra-orphan pathway. In the last assessment in 2021, SMC did not recommend afamelanotide for people with EPP.

Further details can be found here: https://scottishmedicines.org.uk/medicines-advice/afamelanotide-scenesse-ultra-orphan-pathway-reassessment-smc2924/

Pegunigalsidase alfa every 4 weeks for treating people with Fabry disease was not selected by NICE in England for further assessment. This decision was made because Pegunigalsidase has previously been assessed by NICE, who do not expect the new dosing regimen to impact the cost and clinical effectiveness. 

Further details can be found here: https://www.nice.org.uk/guidance/prioritisation/gid-ta11994  

The first committee meeting date for this assessment by NICE in England was held on the 23rd of April 2026. Details of what was discussed during this meeting have not yet been shared.

Further details about this appraisal can be found here: https://www.nice.org.uk/guidance/awaiting-development/gid-hte10066 

Last month, we reported that the assessment of rebisufligene etisparvovec for treating mucopolysaccharidosis type IIIA was initiated by NICE in England in March. In April, the scoping workshop took place. 

Further details about this assessment can be found here: https://www.nice.org.uk/guidance/awaiting-development/gid-ta11701