NICE recommends PTC Therapeutics’ gene therapy for NHS use

pharmafile | March 24, 2023 | News story | Medical Communications  

NICE has recommended PTC Therapeutics’ gene therapy to the NHS for the treatment of ultra-rare disease aromatic L-amino acid decarboxylase (AADC) deficiency. There are an estimated ten children in the UK with AADC deficiency, with only around 120 cases ever having been reported.


AADC deficiency leads to a wide range of severe symptoms mainly affecting the central nervous system, the body’s control system that regulates bodily functions (including heart rate), the gastrointestinal system and the endocrine system (which creates and controls hormones for mood, development and growth).


Upstaza (eladocagene exuparvovec) is a recombinant adeno-associated virus serotype 2 (AAV2)-based gene therapy, carrying the human dopa decarboxylase (DDC) gene – this is faulty in AADC deficiency. Due to the rarity of AADC deficiency, PTC filed for approval using data generated mainly from unblinded studies undertaken in Taiwan which involved 28 children aged between 18 months and eight years. Upstaza was administered directly into the putamen area of the brain, and results showed the patients reaching developmental motor milestones normally unattainable for AADC deficiency patients, such as the ability to walk independently and talk.


NICE is expected to publish its final guidance on Upstaza in April.


NICE director of health technology, Helen Knight stated: “The committee agreed that the clinical trials showed the potential for substantial benefits that were sometimes clearly life changing. Today’s decision comes after a confidential commercial deal between NHS England and the company. This recognises the uncertainty in the evidence of eladocagene exuparvovec’s long-term effectiveness and has enabled the committee to recommend it as good value for the NHS and taxpayers.”


James Spargo

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