Eurordis - Rare Disease Europe

Orphan medicines are intended for the diagnosis, prevention or treatment of rare diseases.

Once designation is granted, and the development has progressed, the sponsor must submit an application for marketing authorisation to the EMA for assessment through the centralised procedure. The benefit-risk ratio of the medicine (i.e. the balance between the efficacy and the safety of the medicine) is assessed by EMA’s Committee for Medicinal Products for Human Use (CHMP). The EMA’s CHMP makes a recommendation on whether or not a medicine should be authorised for use in humans (i.e. whether a market authorisation should be granted). Of note: Designated orphan medicines are eligible for conditional marketing authorisation.

In parallel, the COMP is reviewing the criteria for orphan designation in order to assess whether the orphan status still holds. Then the European Commission takes the final decision on whether to authorise the medicine based on that recommendation and whether to maintain this orphan status or not.

You can also see the EMA’s interactive tool setting out the development and authorisation of medicines for human use.

Once a medicine is authorised at the EU level, the process moves to the national level.

The national competent authorities for pricing and reimbursement decide whether the medicine can be provided and how. In many cases, a health technology assessment body assesses whether the medicine is effective/ cost effective in comparison to existing medicines available in that country and provides a recommendation on whether that medicine should be reimbursed by the national healthcare system – this process is called health technology assessment. The ultimate goal is to have authorised medicines available, affordable and accessible for rare disease patients.

• Advocates for the development of and improved access to innovative orphan medicines that are meaningful to rare disease patients.
• Engages patients in the development process all along the life-cycle of orphan medicines and develops tools to facilitate the engagement of patients in this process. For example, we facilitate the participation of patient representatives in committees and working parties at the EMA so the patient voice is part of the debate, advice to clinical developments and assessment of applications for orphan designation and authorisations.
• Empowers patient representatives with the knowledge and skills needed so they are positioned as experts when sitting at the same table as companies, researchers and regulators.

Read more about our advocacy actions in the area of treatments.

EURORDIS is collaborating with the European Medicines Agency in order to involve patients in the Protocol Assistance procedures.

Parallel consultations are run jointly by the European Medicines Agency (EMA) and the European Network for Health Technology Assessment (EUnetHTA). They inform the governments’ health policies (pricing, reimbursement, organisation, access) on treatments.

EURORDIS collaborates with the European Commission DG SANTE, EUnetHTA, and the EMA to shape a fair, regular, and transparent involvement of patients in parallel consultations. Find more information on parallel consultations on the website of the EMA and EUnetHTA.

You can also view the list of Community Register of orphan medicinal products.

In addition to orphan medicines (i.e. authorized medicines with an orphan status), some medicines are authorized at EU level with an indication for a rare disease but without an orphan status. For more information, please consult the Orphanet Report Series. In addition, some medicines (without an orphan status) are used to treat rare diseases patients and are authorised at the national level.

The conditions under which a patient may travel to another EU country to receive medical care and reimbursement are set out in the Directive 2011/24/EU on patients’ rights in cross-border healthcare and Regulation (EC) No 883/2004 of the European Parliament and of the Council of 29 April 2004 on the coordination of social security systems.

The Directive covers healthcare costs, as well as the prescription and delivery of medications and medical devices.

However, the Directive is not yet fully applied by Member States and the process to access the right to cross border care may not results in a suitable outcome.

EURORDIS is advocating for the fulfilment of European patients’ rights under this Directive through its full implementation in every country. Contact your national contact point to find out more about how to access cross-border healthcare.

The European Commission has also proposed a Regulation to make European cooperation on health technology assessment permanent, stable and sustainable. Pooling expertise together aims to support the decision-making on added value, pricing and reimbursement of health technologies across European countries, both for those who already have high capacity in assessing the value of new technologies and for those who have none.

EURORDIS strongly advocates for the approval of this HTA regulation and for the implementation of the consequent cooperation.

Read more about our advocacy actions in the area of treatments.

HTA plays an important role in determining pricing negotiations, reimbursement decisions, and the organisation of the health systems (including for orphan medicinal products and rare diseases).

HTA also evaluates the medical, social, ethical and economic implications of these interventions. The goal of HTA is to support health care decisions and to serve policy making through objective information.

HTA is mainly performed at national level to inform governments’ policies. Since 1988 European Countries have tried to cooperate on HTA to make it more evidence-based, timely and transparent. The European Commission has been funding several projects of voluntary cooperation among national competent authorities for HTA (for example, the European Network for HTA – EUnetHTA). Today, the European Commission has proposed a Regulation to make European cooperation on HTA permanent and beneficial for all EU countries.

EURORDIS facilitates the participation of patient representatives in several committees and working parties at the European Medicines Agency (EMA) that play a role in the development of orphan medicines. Patients can be involved as full members (or alternates) of the Committees or as adhoc experts.

Please find below the links to the lists of Members in each Committees / Working Parties

• Committee for Orphan Medicinal Products (COMP)
• Paediatric Committee (PDCO)
• Committee for Advanced Therapies (CAT)
• Scientific Advice Working Party (SAWP)
• Committee for Medicinal Products for Human Use (CHMP)
• Pharmacovigilance Risk Assessment Committee (PRAC)
• Committee on Herbal Medicinal Products (HMPC)
• Patients’ and Consumers’ Working Party (PCWP)

EURORDIS also has several internal working groups that bring together patient representative volunteers from EURORDIS member organisations at the EMA:

• The Therapeutic Action Group (TAG)  is composed of EURORDIS volunteers in the scientific committees and working parties at the EMA.
• The Drug Information, Transparency and Access (DITA) Task Force closely follows the work done by patients and consumers at the EMA in the areas of product information, transparency of the regulatory process and access to medicines.

Contact us if you are interested in joining one of these working groups or engaging in an EMA committee/working party. If you are a patient representative or a researcher looking to gain knowledge and become an expert on the R&D of medicines for rare diseases you can also take part in the EURORDIS Summer School on Medicines Research & Development

EURORDIS also contributed to the IRDiRC Orphan Drug Development Guidebook to guide academic and industrial drug developers. It sets out the available tools and initiatives specific for rare disease development and how to best use them.

See information on how you can report adverse events and side effects of a medicine.