Eurordis - Rare Disease Europe

You can search clinicaltrials.gov or Orphanet. If you have any questions on how to search for a clinical trial contact us.

Have you encountered challenges accessing treatment for your condition, such as medicines, medical devices, surgeries, or consultations? The EURORDIS Access Campaign Questionnaire invites people living with a rare disease who have faced difficulties accessing treatment to participate in a brief online survey.

When confronted with difficulties obtaining necessary medicines, it’s crucial to address various aspects of access, including affordability, availability, and geographical considerations. 

If the medicine is too expensive, explore options like patient assistance programmes. Additionally, contact your health insurance provider to check if the medicine is covered.

For EU citizens seeking medicines available in another EU country, you have the right to access healthcare and be reimbursed for care abroad. The conditions for this are outlined in the Directive 2011/24/EU on patients’ rights in cross-border healthcare and Regulation (EC) No 883/2004. While the directive is not fully applied by all Member States, EURORDIS advocates for its comprehensive implementation. Contact your national contact point for more information on accessing cross-border healthcare.

EURORDIS cannot respond to questions concerning the medical aspects of a rare disease. EURORDIS does not employ qualified medical personnel or information specialists to give medical advice, diagnose illness, or offer referrals. We strongly recommend that you seek the advice of your health care provider with questions regarding medical care. If you need help finding a patient group for your disease please search here or search for an expert centre or network (Orphanet).

However, EURORDIS is collaborating with the European Medicines Agency to involve patients in the Protocol Assistance procedures. Protocol assistance is a form of scientific advice for orphan medicines. Please contact us for more information.

Patient engagement in rare disease treatment development is crucial for ensuring that medicines effectively address real-life needs. EURORDIS facilitates patient representatives’ participation in various committees, e.g. COMP, at the European Medicines Agency (EMA), allowing them to contribute throughout the life cycle of orphan medicines. Patients can serve as full members or ad-hoc experts in these committees.

EURORDIS also coordinates internal working groups, such as the Therapeutic Action Group (TAG) and the Drug Information, Transparency, and Access (DITA) Task Force. TAG comprises EURORDIS volunteers in EMA scientific committees, while DITA focuses on product information, regulatory process transparency, and access to medicines.

If you are interested, please contact us at eurordis@eurordis.org. 

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 School on Medicines Research & Development.

Pharmacovigilance is the science and activities related to the detection and reporting of side effects of a medicine, together with measures to minimise these risks.

Advanced therapy medicinal products (ATMPs) are medicines for human use that are based on genes, tissues or cells. They are highly relevant for the treatment of rare diseases as they might, for example, target the genetic cause of a rare disease. Research to develop ATMPs for rare diseases creates a pool of knowledge that can be highly valuable for the development of medicinal products for more common diseases.

Medical devices, surgery, radiotherapy, physiotherapy, assistive technologies and digital devices may also be used in the treatment of rare diseases.

A repurposed medicine is a medicine already approved for human use in a certain indication and for which researchers or clinicians identify new disease(s) that the medicine could treat (i.e. a new indication). Because the medicine is already in use, some data are already available, especially regarding the safety profile of the medicine. Additional data have to be collected through clinical study to confirm the efficacy of a medicine in the new patient population. However, the repurposing approach brings advantages for a rare disease as it saves money and time as a new compound doesn’t have to be found and developed from scratch.

The sponsor (public or private) developing an orphan medicine can apply to the European Medicines Agency (EMA) for orphan designation. After full review, the EMA’s Committee for Orphan Medicinal Products (COMP) issues an opinion recommending whether the orphan designation should be granted and the European Commission makes the final decision.

In the EU, patients are involved in benefit-risk discussions at the EMA as members of the Pharmacovigilance Committee (PRAC), through their participation in scientific advice/protocol assistance procedures, and in Scientific Advisory Group (SAG) meetings. There is also a pilot initiative involving patients in the CHMP during oral explanations preceding decision-making.

EMA: The evaluation of medicines, step-by-step

EURORDIS:

Any investigation in human subjects intended to discover or verify the clinical, pharmacological and/or other pharmacodynamic effects of an investigational product(s), and/or to identify any adverse reactions to an investigational product(s), and/or to study absorption, distribution, metabolism, and excretion of an investigational product(s) with the object of ascertaining its safety and/or efficacy. The terms “clinical trial” and “clinical study” are synonymous.

A list of the latest marketing authorisations and orphan medicinal products designations is available here.

For more information on what treatments are available in your country please contact your national competent authority.

Once a medicine is authorised at the EU level, the next step is for the national authorities to negotiate a price for the medicine and decide if it will be reimbursed through the national healthcare system. Unfortunately this decision is not always immediately positive. They may decide the price is too high, negotiations with the company may break down, or they may assess that the effectiveness of the medicine and added value in comparison to an existing medicine available in that country is not high enough.

When doctors prescribe a medicine for a use different from what is authorised on the label, this is called “off label” use. For example when the drug is prescribed for a different disease or when the dosage differs from the one stated on the label. Patients with rare diseases and their families are often familiar with this practice, or may not even realise that they are taking products that are prescribed “off-label”.

EU citizens have the right to access healthcare in any EU country and to be reimbursed for care abroad by their home country.

A compassionate use programme (CUP) consists of making a medicinal product available for compassionate reasons to a group of patients (or sometimes individual patients on a case-by-case basis) with a chronically or seriously debilitating disease or whose disease is considered to be life-threatening, and who cannot be treated satisfactorily by an authorised medicinal product. Learn more about compassionate use.

The European Medicines Agency has put in place mechanisms including the PRIME scheme. This voluntary scheme is based on enhanced interaction and early dialogue with developers of promising medicines, to optimise development plans and speed up evaluation so these medicines can reach patients earlier.

EURORDIS has put forward a proposal to tackle the challenges that prevent patients’ access to care and medicines, including the ambition to have 3 to 5 times more new rare disease therapies approved per year by 2025, 3 to 5 times cheaper than today.

HTA  is a multi-disciplinary field and a process performed by competent authorities or sometimes academics to inform health policies. It consists of examining the long-term effects of any existing or new health care technology, including drugs, medical devices, procedures and organisational systems used in health care.

It is vital that patients are engaged in the development of treatments for rare diseases. By providing feedback on their real-life needs throughout the life-cycle development of medicines, patients can play a role in ensuring the end product truly serves its purpose, to improve their health outputs and quality of life.

The PARADIGM partnership, in which EURORDIS was a partner, has developed a series of tools that all stakeholders involved in the development of medicines – including patient organisations – can use to facilitate patient engagement.

If you are having issues accessing a treatment in your country you can approach your local member of parliament of member of the European Parliament for support. You can also contact your national rare disease alliance, European Federations or contact us.

EURORDIS engages in dialogue with companies through the EURORDIS Round Table of Companies.