Eladocagene exuparvovec is recommended, within its marketing authorisation, as an option for treating aromatic L‑amino acid decarboxylase (AADC) deficiency in people 18 months and over with a clinical, molecular and genetically confirmed diagnosis of AADC deficiency with a severe phenotype. Eladocagene exuparvovec is only recommended if the company provides it according to the commercial arrangement.
Why the committee made these recommendations
AADC deficiency is a rare genetic disorder that causes a wide range of debilitating symptoms. Normal motor development in young children (such as head control, sitting and walking with help) is particularly affected. Severe AADC deficiency is associated with a high risk of death in childhood. It also has a substantial effect on the quality of life of the person with the condition, and their family and carers. Current treatments only manage the symptoms of AADC. There are no specific treatments for the condition.
The clinical evidence suggests that eladocagene exuparvovec improves motor development, and that these improvements will last. But the results are uncertain because the studies are very small, and provide limited long-term data and limited information about non-motor outcomes.
Even taking this uncertainty into account, the cost-effectiveness estimates for eladocagene exuparvovec are within the range that NICE considers an effective use of NHS resources for highly specialised technologies. So, eladocagene exuparvovec is recommended for routine use in the NHS.