England's NICE signs off on PTC Therapeutics' $3.7M gene therapy for ultra-rare disease

PTC Therapeutics’ Upstaza, a gene therapy for an ultra-rare genetic disorder and the first to be directly infused in the brain, is one step closer to reaching patients in the U.K.

The National Institute for Health and Care Excellence (NICE) has recommended the therapy to treat patients with aromatic L-amino acid decarboxylase (AADC) deficiency who are 18 months and older. PTC has inked a confidential discount access scheme to make Upstaza available to the National Health Service (NHS), NICE says.

The drug carries a list price of 3 million pounds sterling (around $3.71 million) per 0.5-mL infusion solution before the confidential discount.

AADC deficiency is so rare that it affects an estimated 10 children in the U.K., only a few of whom could be eligible for the treatment. The disease causes a wide range of severe symptoms, but around 80% of patients have a severe form that leaves them fully dependent on caregivers and unable to meet normal developmental milestones.

Due to the rarity of this condition, there isn’t much research on the expected life span of a person with AADC deficiency. It’s estimated that most patients die before their tenth birthday. Those deaths are usually attributed to cardiac events, organ failures, pneumonia or asphyxia, NICE wrote.

Until Upstaza, treatment usually consisted of physical and occupational therapy and support from specialized physicians.

One dose of PTC’s therapy, infused into the brain in a minimally invasive procedure, corrects the underlying genetic defect that causes the disease, according to the company.

Upstaza offers “transformative benefits to people with AADC deficiency, and their family and carers,” NICE’s director of health technology assessment, Helen Knight, said in a statement. 

The drug was tested in three single-arm studies that enrolled 28 patients with severe AADC deficiency. At baseline, all patients had no motor function. With treatment, investigators noted “substantial improvements” from a single dose, which lasted at least five years.

The therapy won its approval in the U.K. back in November. That nod followed a European marketing authorization last May.

NICE expects to publish its final guidance on Upstaza next month.