Ms Vicky McGrath:

Good Morning. I am the chief executive of Rare Diseases Ireland. We are the national alliance for rare disease patient organisations in Ireland working across all rare diseases, including oncology, to improve the lives of the estimated 300,000 people living with rare diseases in Ireland. I thank the Chair and the committee for affording me the opportunity to address them today. Seven years ago, almost to the day, I sat in front of this committee and answered questions on the same topic of access to medicines for rare diseases. I spoke then of a reimbursement system that continues to fail the patients it is supposed to serve. I would love to say that seven years later things have changed but sadly I cannot. It was November 2018 when I last addressed the committee on this topic. It is worth noting that 2018 was also the year in which the health committee published the Evaluating Orphan Drugs report, which called for reform of the reimbursement process specifically for orphan medicinal products, OMPs. As a quick reminder, OMPs, or orphan drugs, are defined as medicines that prevent or treat rare diseases, which affect less than one in 2,000 people. There are an estimated 6,000 to 8,000 rare diseases According to Orphanet, the European standard database for all things rare diseases, approximately 150 OMPs from 87 pharmaceutical companies were authorised for sale in Europe as of March 2025. Therefore, less than 5% of rare diseases benefit from an orphan product.

Marketing authorisation from the European Medicines Agency is the trigger for permitting a new OMP to be made available. Specifically, marketing authorisation means a pharmaceutical company has received approval to sell a medicine in all EU countries based on a thorough scientific assessment of the medicine's quality, safety and efficacy. In the five-year period following the 2018 meeting and the publication of the health committee report, the EMA together with the Commission granted marketing authorisation to 76 orphan medicinal products. Eight were subsequently withdrawn from the market, leaving 68 OMPs authorised by the EMA to be placed on the market. That is 68 new medicines specifically targeting rare diseases. However, only 19 have been approved for reimbursement by the HSE. That means that just 28% of orphan products authorised in the period between January 2019 and December 2023 are available to Irish patients today. The average time from authorisation to HSE reimbursement for these 19 products is 1,024 days, approximately two years and nine months.

When so few innovative medicines are available to public patients in Ireland, no one can deny the system is broken. I would like the committee to note I am specifically referring to public patients. Those with access to private healthcare get access to some of these non-HSE-reimbursed OMPs privately. The Government talks of Sláintecare, a universal single-tier service where access is based on need and not ability to pay. The reality is very different on the ground for people living with rare diseases, in particular rare cancers. Members may hear the HSE and industry say delays in reimbursement decisions are largely the fault of the other party. It is certainly not the fault of patients seeking access to these OMPs, which will slow disease progression, stabilise health, improve quality of life and are sometimes potentially even curative. They are OMPs that their friends and family members get access to in Northern Ireland or across the water in Great Britain and mainland Europe. Even more galling, their friends and family may access them through private healthcare here in Ireland. It is not their fault.

What of the 49 OMPs that have received EMA market authorisation but are not reimbursed by the HSE? For 27 of them, an application for reimbursement has never even been filed with the HSE. Who is the gatekeeper when it comes to making clinical decisions on the best care for a patient? It is not the healthcare expert or even the HSE. Control has been ceded to the manufacturer in these circumstances. We had such an example from CHI over the last few weeks where a clinician had sought access to a therapy but was denied. The drug in question received authorisation over four years ago. Where is the equity in this? Correspondence from the Minister’s office to the affected family dated August of this year simply stated that no pricing or reimbursement application had been received by the HSE.

That is it; there is nothing more. The manufacturer has not submitted an application and, therefore, the drug is not available. There is nothing we can do. Again I ask, who is responsible for this? Who will take leadership and make certain that no more families are left to the whims of individual manufacturers?

Twenty-seven OMPs with no application for reimbursement means that the manufacturer has either determined that they will not seek reimbursement for the Irish market or that they are delaying seeking reimbursement. We must ask why this is. We are a wealthy country. We are the home to many pharmaceutical companies. We are a leader of life sciences innovation in Europe. Yet, no application for reimbursement is even being made. What type of reputation does Ireland have among small and innovative drug companies that they will not even make a submission for reimbursement? We are seeking to attract these innovators to our shores, but we cannot even entice them to sell their novel products into our public healthcare system. Applications for reimbursement have been submitted for the remaining 22 orphan drugs but no final decision has been made. Nineteen of the 22 have been in the reimbursement system for over two years and eight of them have been there for over three years. In fact, as of the start of this week, one product has been in the system for 2,190 days – that is six years.

As an example of the real-world impact these delays have on people living with rare diseases, there is another drug that was approved by the EMA in 2021. The application for reimbursement was submitted by the manufacturer over three years ago, in mid-2022. The product is designed to target inoperable tumours on nerves in children aged three and over. The drug slows tumour growth and helps with symptoms like pain and weakness. While we wait for a decision to be made, tumours grow and the affected children’s physical and psychological health is allowed to deteriorate. Why do we allow this to happen? Why must children suffer while the grown-ups gather around tables to negotiate? These individuals should spend a day in the shoes of these children’s parents to see the real pain and absolute urgency of their decisions.