#EAPM – Rare diseases, orphan drugs and development of ERNs

| June 27, 2019

The European Alliance for Personalised Medicine (EAPM) has always campaigned for equal access for patients to the best care and treatments available, and this more than holds true for sufferers of rare diseases, writes EAPM Executive Director Denis Horgan.

The Orphan Medicines Regulation, which the EU adopted in 2000, has helped in the development of relevant medicines for rare-disease patients, with more than 150 of them now on the market.

Therefore, in 2020 it will be the 20th anniversary of the Regulation, which was, and still is, geared towards making sure that patients suffering from rare conditions have the same quality of treatment as any other patient.

As it stands, though, major efforts are still required to foster and stimulate research in order to increase existing knowledge, which is nowhere near enough to meet the challenges.

More on rare diseases

It is estimated that there are between 5,000-8,000 distinct rare diseases. Many of these affect children, the average diagnosis times is five years, and 95% of sufferers still do not have available therapy.

On top of the five years it takes for diagnosis, it also takes an average of seven doctors to reach a correct diagnosis.

In Europe, a rare disease or disorder is one that affects fewer than one in 2,000 people. Many, but not all, are cancers. Most are genetic.

All-in-all, these diseases are distinctive in that there are, obviously, a limited number of patients with them and often a lack of long-term research and therefore knowledge regarding them.

Also, clinical trials are difficult to organize with a disease sub-group spread out across many countries.And, in the end, plenty of orphan drugs have failed in their bids for marketing authorization.

Obviously drug prices are generally high as a great deal of time, money and other resources have to go into research and development. This then has to be balanced against a need to recoup the investmentsomehow.

The European Union has said that these life-threatening or chronically debilitating diseases affect so few people that combined efforts are needed to reduce the number contracting the diseases.

The role of data 

Health and Food Safety Commissioner Vytenis Andriukaitis has noted that there is a vast amount of data on patients with specific conditions, but this is scattered across Europe in around 600 different registries. These are databases that hold information on patients with specific conditions. 

As it stands, the vital data available is not collected EU-wide, and there are no shared standards to analyse the information already out there.

European Reference Networks are vital to linking centres of expertise and professionals in different countries to share knowledge and identify where patients should go when expertise is unavailable in their home country.

It is clear that the EU needs to encourage more research into rare diseases,and evaluate current screening population practices alongside supporting raredisease registries.

In the meantime, the European Commission is to adopt a joint evaluation of existing legislation on medicine for children and rare diseases.

 The approach will involve, firstly, assessing the efficiency of EU legislation. This will be achieved by analyzing the impact that incentives have on pharmaceutical innovation in this area.

Secondly, it will try to establish the availability and accessibility of relevant medicines in the European Union.

The priority among patients and stakeholders is to pull together an effective strategy that will allow the translation of EU, alongside optimal use of knowledge and European Reference Networks, geared towards reaching the goal of better access to treatment for raredisease patients.

ERNs – how well are they working? 

The European Commission has already taken a look at how ERNs, only a couple of years old, are functioning. 

Separately, these ERNs were partly the subject of a June report from the European Court of Auditors, which noted that another piece of EU legislation, namely the Cross-Border Healthcare Directive, “facilitates closer co-operation in a number of areas: notably the cross-border exchange of patients’ data and access to healthcare for patients with rare diseases”. 

The Courts report noted that the concept of European Reference Networks for rare disease is widely supported by EU stakeholders (patients’ organizations, doctors and healthcare providers)”. 

However, the report stated: “The Commission has not provided a clear vision for their future financing and how to develop and integrate them into national healthcare systems.” 

The ERNs were launched in 2017 for different classes of rare diseases. Each receives 1 million funding over five years from the EU Health Programme. 

The Commission also finances patient registries and support activities for the ERNs as well as the development of IT tools, notably through the Connecting Europe Facility.

Where we are and where we need to be

Many experts agree that rare diseases are certainly among the most compelling reasons to enhance co-operation on health at EU-level, regardless of member state competence in healthcare.

Currently, the system of access is not adapted to new science, nor is there enough stimulus for research to meet medical needs. This leads to a situation in which the system, – as it stands – does not address the needs of rare-disease patients. 

There certainly needs to be more cross-border cooperation to make the most of ERNs by improving connections to bring about more sharing of expertise.

When it comes to drugs for rare diseases, there is clearly a threshold at which point the market is simply too small for pharmaceutical companies to justify the investment in R&D. This problem has to be addressed.

The European Commission has acknowledged that this is fundamentally about numbers. The Commission’s approach has been based on creating a critical mass in the ERNs and to offer incentives through the Orphan Medicines Regulation.

The EU Executive has said that incentives help to solve part of the problem. Generally speaking, the incentives have delivered, it says, but the Regulation has had unwanted effects – such as occasional extremely high prices.

Integration and co-operation

Many, including those at EU level, believe that the next step should be to fully integrate ERNs into national health care structures. This would decrease the diagnosis time. 

ERNs also need to be transformed into an environment that is beneficial for research.

But to successfully do this, there’s a need to work much better together. There is a strong argument that centralization is good for rare diseases, and member states also need to set up contact points for ERNs.

There’s obviously a need for a ‘sales pitch’ to explain to national healthcare systems across Europe just what good tools ERNs are. Unfortunately, to make that sales pitch more difficult, systems are not interoperable. This is an issue that urgently needs to be addressed. 

On their own, ERNs will not solve everything. So member states need to be motivated to persuade them to work together.

Real-world evidence has a part to play, also. There is a requirement to have a clear vision and broad cohorts to have such data. 

Industry believes it is ready to face the need to move forward on real-world evidence and being disease-focused. Yet Europe must build expertise– and fortunately this is already taking place in member states. 

But innovation without access misses the point. And, ultimately, no patient should be left without a pathway, rare disease or not.


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