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NICE Recommends Upstaza for Rare Genetic Disorder

NICE Recommends Upstaza for Rare Genetic Disorder
The UK’s National Institute for Health and Care Excellence (NICE) has recommended PTC Therapeutics’ Upstaza (eladocagene exuparvovec) for National Health Service (NHS) use in treating patients with severe cases of aromatic L-amino acid decarboxylase deficiency.

The rare genetic disorder affects motor development and is associated with high risk of death in childhood.

Infused directly into the brain as a single dose, Upstaza is a gene therapy designed to correct the underlying genetic defect.

NICE noted that the supporting clinical trial data showed the treatment improved motor development but only provided limited information on non-motor outcomes.

The list price of Upstaza is more than $3.6 million for a 0.5 ml solution for infusion. The negotiated price for NHS use was not disclosed.


Upstaza is a gene therapy medicine that is used in adults and children aged 18 months and older with severe aromatic L-amino acid decarboxylase (AADC) deficiency with a genetically confirmed diagnosis. AADC deficiency is an inherited disease that affects the nervous system leading to symptoms such as developmental delays, weak muscle tone and inability to control the movement of the limbs.

AADC deficiency is rare, and Upstaza was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 18 November 2016. 
Upstaza is a type of advanced therapy medicine called a ‘gene therapy product’. This is a type of medicine that works by delivering genes into the body.

Upstaza contains eladocagene exuparvovec, a functional version of the AADC gene within a modified virus (adeno-associated viral vector). The virus used in this medicine is not known to cause a disease in humans.

March 28, 2023

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