Mr. Richard Lodge:

My name is Richard Lodge and I am the chief executive officer of Muscular Dystrophy Ireland and I am here with our information specialist Ms Clair Kelly. I thank the committee for taking the time to hear our representations today. I speak on behalf of the 800 members of Muscular Dystrophy Ireland and the five children currently known to us who could benefit from the drug Translarna. I especially speak on behalf of the two children aged five and seven years who are currently losing valuable treatment time, children of parents who are forced to watch as a narrow window of opportunity closes permanently.

Duchenne muscular dystrophy is a debilitating condition resulting in the progressive weakening and wasting of the muscles. A child with Duchenne can expect to lose the ability to walk by the age of ten years, to develop cardiac and respiratory problems in their teens and will have an average life expectancy of 27 years. Translarna is the first ever treatment for Duchenne to receive European Medicines Agency, EMA, approval. European specialists believe it has the potential to change the course of the disease and improve the overall life expectancy of patients. Since 2014, more than 400 children in 22 European countries have been receiving this medication. This leaves Ireland as one of the last remaining countries yet to facilitate treatment. It appears as though our decision not to reimburse for Translarna is at odds with experts across Europe. Would this imply that the European Medicines Agency and the 22 other European countries have all got it wrong or it is the case that we are behind the curve?

Muscular Dystrophy Ireland has made several observations regarding the assessment of Translarna including an excessively long process, little apparent understanding of the progressive nature of the condition, no meaningful engagement with patient groups and no evidence of expert clinical input despite the clear unmet clinical need. There is also the decision not to include into the equation the compelling evidence from a phase 3 clinical study. Delays to date have included the failure to discuss Translarna at the most recent drugs group meeting despite it being an item on the agenda. It is now almost a year since the HSE leadership team stated it was eager to review Translarna again. One requirement of treatment is the ability to walk at least ten steps unaided. These delays in access will directly result in some of these children missing the opportunity for treatment as their condition deteriorates and they lose ambulation. This drug may not be cheap but it may be cheaper than the cost of caring for a non-ambulatory child for a year. Evidence indicates that the earlier the drug is prescribed, the more muscular integrity is retained. Under the UN Convention on the Rights of the Child, children have an explicit right to achieve their developmental potential and sustain the highest possible standards of health. Is there a danger that we are jeopardising that right? For the first time ever, we have treatments in development for Duchenne, spinal muscular atrophy, SMA, alpha-1, cystic fibrosis, cystinosis and a number of other rare diseases. Ireland does not appear to be ready for this and Irish patients are falling behind their European Counterparts. In the case of access to Translarna, Ireland is now three years behind France and Germany and a full year behind England, Scotland and Northern Ireland.

Our current system of assessment for rare diseases is not fit for purpose and we are concerned about the lack of development of strategies for the provision of high technology and orphan therapies. As it stands, no orphan drugs will get through the current health technology assessment, HTA, process and therefore no people with a rare disease will be treated until a solution is put in place. One such solution is the implementation of the recommendations of the national rare disease plan, approved by the Government in 2014. The HSE has committed to the development of a working group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies. The promised technical review committee for orphan drugs, while in progress, was without a chair until this morning. It may be that this meeting has prompted that appointment. It remains unresourced and has yet to meet.

We also need to consider other avenues for accessing orphan drugs, including fast track, managed access and managed risk programmes. We need an immediate fix for the current situation while the oil tanker that is the present process alters course. Our request as a patient organisation is for a timely conclusion of the review of Translarna and a fair and transparent process that will not leave rare diseases behind. We also ask for our children with muscular dystrophy to attain the same opportunities for health as their European counterparts, especially those in adjoining jurisdictions, without the need to move there. Currently, we are failing these children.