Eladocagene exuparvovec is for children with ultra-rare genetic disorder in final draft guidance

Eladocagene exuparvovec, the only gene therapy for children with the ultra-rare genetic disorder, aromatic L-amino acid decarboxylase (AADC) deficiency, has been recommended by the National Institute for Health and Care Excellence (NICE).

It is estimated that there are only ten UK-based children with the ultra-rare condition and a small number of these individuals may be eligible for the therapy.

AADC, which is triggered by a genetic mutation, leads to a wide range of severe symptoms, mainly affecting the central nervous system, autonomic nervous system, endocrine system and gastrointestinal system.

In younger children, motor development – such as head control, sitting and walking – is especially impacted.

NICE’s guidance recommends treatment with eladocagene exuparvovec – made by PTC Therapeutics – through a single dose that is designed to correct the underlying genetic defect in people 18 months and over who have a severe form of AADC deficiency.

Eladocagene exuparvovec is administered directly into the brain through a minimally invasive neurosurgical procedure. The clinical evidence shows that it improves motor development and that these improvements could be long-lasting.

NHS England’s national director for specialised commissioning and interim commercial medicines director, John Stewart, explained: “The NHS is continually adopting cutting-edge treatments that push the boundaries of medical science and this latest gene therapy demonstrates this once again, providing a first treatment option for children with an incredibly rare condition.”

He added: “It is testament to the abilities of NHS specialised services, staffed by incredibly talented multidisciplinary teams, that they are able to deliver novel therapies like this one and that’s why commercial colleagues work so hard to secure NHS access to innovative treatments at a price that is fair to taxpayers.”

Helen Knight, director of medicines evaluation at NICE, concluded: “The committee heard from patient experts about how the lives of children with AADC deficiency are severely impacted and shortened. They also heard about the substantial effect it has on the quality of life of the person with the condition and their family and carers.

“Eladocagene exuparvovec offers transformative benefits to people with AADC deficiency, and their family and carers. The committee agreed that the clinical trials showed the potential for substantial benefits that were sometimes clearly life changing.”

Meanwhile, around 80% of people with AADC deficiency present with a severe form of the condition and are fully dependent on carers. In very severe cases, people may be bedridden with little or no motor function. Previously there have been no licensed treatments for AADC deficiency.