Rare Disease Report

Rare Diseases in the Spotlight at EU Level

MARCH 15, 2017
BioPontis Alliance
Accelerating patient access to promising new medicines is one of the areas of focus of the European Union (EU). This is shown, for example, by the launch last year by the European Medicines Agency (EMA) of the PRIME initiative, which aims at supporting the development of medicines that target an unmet medical need.

Following up on that initiative, this article provides a brief outline of recent events and initiatives that are relevant to rare disease patients that have taken place at the EU level since the inception of the year.

The European Reference Networks Initiative

On 28 February 2017, the 10th edition of Rare Disease Day, the European Commissioner for Health and Food Safety, Vytenis Andriukaitis, made a speech at the UZ-Leuven hospital in Belgium to present the European Commission’s long-term plans to combat rare diseases and improve patient accessibility to orphan medicinal products (OMPs), i.e. medicinal products used to diagnose, prevent and treat rare diseases. In the EU, any disease affecting fewer than 5 people in 10,000 is considered a rare disease.
In this context, the European Commission announced the official launch on 1 March 2017 of the European Reference Networks (ERNs) for rare diseases. The ERNs are virtual networks bringing together around a thousand healthcare providers and centers of expertise in the EU Member States. The development of ERNs is provided for in Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare. The stated objectives of ERNs include the improvement of EU cross-border collaboration in the diagnosis and treatment of rare diseases and the provision of affordable, high-quality and cost-effective healthcare.

In Link with Industry Call for Collaboration

The ERNs initiative comes at a time where pharmaceutical industry associations are calling for collaboration and political commitment in the development of treatments for rare diseases. The International Federation of Pharmaceutical Manufacturers & Associations issued a report describing key challenges in areas such as R&D, clinical trials, diagnosis and access to treatment of rare diseases.
Also the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE) issued a press release in which it called for further EU cooperation in improving the accessibility of treatments for rare diseases. EUCOPE stated that while the EU Regulation on Orphan Medicinal Products may be considered a success in encouraging the development of therapies for rare diseases, the availability of such treatments varies between EU Member States due to different pricing and reimbursement systems across the EU.

Ten Years of Conditional marketing Authorizations

On 23 January 2017, the EMA published a report concerning the data collected between 2006 and 2016 on the so-called “conditional marketing authorizations” (CMAs).
CMAs allow pharmaceutical companies in the EU to obtain the authorization to place a medicinal product on the market provided they subsequently fulfill certain conditions. CMAs were designed for speeding up access to various categories of medicinal products, including orphan products. They are regulated by CMA Regulation 507/2006.
The CMA Regulation allows the authorization of medicinal products if the public health benefit of their immediate availability to patients is deemed to outweigh the risk of an authorization granted based on less comprehensive data than normally required for obtaining a standard marketing authorization. As part of the CMAs, companies marketing medicinal products are obliged to carry out further post-authorization studies to obtain more comprehensive safety, quality and efficacy data.
Amongst other things, the EMA report shows that it takes an average of four years to generate the additional data needed to convert a CMA into a standard marketing authorization. Based on ten years of experience with the CMA Regulation, the EMA report also identifies a number of possible areas for improvement, including the prospective planning of CMAs and early dialogue with EMA to support the generation of high-quality data and the timely discussion of additional post-authorization studies and their feasibility.


The above reports and initiatives demonstrate that while the accessibility of OMPs and treatments that target unmet medical needs remains hindered by a number of different factors, including long authorization procedures and the diverging national approaches to regulation of healthcare (particularly as regards pricing and reimbursement), focus has been – and continues to be – placed on rare diseases in the EU, with a commitment at EU level to further harmonize and improve existing regulations with a view to facilitating early access to treatment for patients.
This article was contributed by BioPontis Alliance for Rare Diseases with help from Board member Howard Liebman, Esq. He is a Partner at the international law firm, Jones Day. His colleagues at Jones Day, Cristiana Spontoni and Elinor Pecsteen, wrote the article.
Cristiana Spontoni is a Partner at law firm Jones Day and is internationally recognized as a leader in EU life sciences.
Elinor Pecsteen is an Associate in the Healthcare and Life Sciences practice of Jones Day, focusing on medical devices, pharmaceuticals and food.

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