Charity pushes for drug to be made available to fight rare blindness disease

In a letter to Health Minister Stephen Donnelly in July, the charity Fighting Blindness cited a two-year-old and a three-year-old with a rare genetic mutation that could cause them blindness.

The HSE has said an application to fund a gene therapy that can fight a rare condition which can result in blindness remains “under consideration”, amid calls to make Luxturna available to treat adults and children in Ireland.

While Luxturna is available for patients in Britain and most other countries in western Europe, it has not yet been approved for reimbursement in Ireland.

It is used to treat the rare biallelic RPE65 mutation, which can block the visual cycle and result in impaired vision. Over time, and often during childhood or adolescence, it can ultimately progress to complete blindness.

New treatments on the market for rare diseases routinely come with a high cost, and the HSE has said it is committed to providing access to as many medicines as possible from the resources available to it.

The National Centre for Pharmacoeconomics, the body which rules on new medicines, said in 2020 that the cost per patient of a once-off treatment course of Luxturna was €810,750. Over a five-year period, the gross budget impact of the drug was estimated to be €7.2m.

It recommended that Luxturna not be reimbursed by the HSE “unless cost-effectiveness can be improved relative to existing treatments”.

Following this recommendation, the HSE Drugs Group entered into commercial negotiations with Spark Therapeutics over the potential use of the drug here.

The charity Fighting Blindness has been pushing for the drug to be reimbursed for patients in Ireland.

Socioeconomic impact on patients

Ahead of the 2020 general election, the charity said the debate on personalised medicine should take into account the socioeconomic impact on patients.

“If the cure is waiting, we shouldn’t be,” the charity said.

In a letter to Health Minister Stephen Donnelly in July, the charity cited a two-year-old and a three-year-old with this rare genetic mutation that could cause them blindness.

“The incidence rate in Ireland for the RPE65 mutation is estimated to be 10 patients per decade; and with a human rights basis for healthcare they should be afforded access,” it said. 

“For [these children], it is their only hope to save their sight.” 

Fighting Blindness said the supports required for individuals over the course of their lives would far outstrip the cost of the therapy that may save their sight.

“We understand that a pricing structure can be negotiated and staged payments could ameliorate the investment costs – and this has not been fully explored,” it added.

We can’t turn a closed eye to preventing the sight-loss of an Irish child when the long-term cost of carers, lost revenue, socioeconomic and wellbeing costs are factored.” 

In a response from the minister’s office in September, it said a committee on rare drug treatments had completed a review of Luxturna and had submitted it to the HSE Drugs Group.

In a follow up query in late November, Fighting Blindness again asked the minister for an update.

This week, however, the HSE confirmed the drug therapy was still “under consideration”.

It said: “The HSE robustly assesses applications for pricing and reimbursement to make sure that it can stretch available resources as far as possible and to deliver the best value in relation to each medicine and ultimately more medicines to Irish citizens and patients.

“HSE decisions on which medicines are reimbursed by the taxpayer are made on objective, scientific and economic grounds.

“The HSE cannot make any comment on possible outcomes from the ongoing process.”