Find the answers to your questions about treatments for rare diseases.
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About treatments for rare diseases
What is an orphan medicine?
Orphan medicines are intended for the diagnosis, prevention or treatment of rare diseases.
These medicines were called “orphan” because under normal market conditions (i.e. in the absence of an orphan regulation) the pharmaceutical industry has little interest in developing and marketing products intended for only a small number of patients, when the high cost of bringing a medicinal product to market may not be recovered by the expected sales of the product.
The EU Orphan Medicinal Products Regulation (2000) brought into place a range of incentives aimed at encouraging the development of medicines for rare diseases. Since 1999 there have been over 2000 orphan designations and around 200 orphan medicines authorised for market. Orphan medicines may also be paediatric medicines for the treatment of rare diseases in children, or advanced therapies.
What is an advanced therapy?
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.
What other forms of treatment are available for a person living with a rare disease?
Medical devices, surgery, radiotherapy, physiotherapy, assistive technologies and digital devices may also be used in the treatment of rare diseases.
What is a repurposed medicine?
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 development & authorisation of orphan medicines
How are orphan medicines authorised for the EU market?
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.
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.
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.
EURORDIS’ role in the development of orphan medicines
- 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.
What is protocol assistance?
The European Medicines Agency (EMA) can provide medicine developers with advice on the most appropriate way to design and conduct a clinical development in order to generate robust evidence on a medicine’s benefits and risks. EMA provides scientific advice to support the timely and sound development of high-quality, effective and safe medicines, for the benefit of patients. Protocol assistance is a form of scientific advice for orphan medicines.
EURORDIS is collaborating with the European Medicines Agency in order to involve patients in the Protocol Assistance procedures.
What is a parallel consultation?
A parallel consultation is a special form of scientific advice (or protocol assistance) that enquires not only about the development and the evidence needed for the marketing authorisation of a medicine, but also about the evidence needed for the assessment that will inform the decision on coverage, reimbursement and access at national level.
Parallel consultations can be 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.
Access to orphan medicines
How can I find a list of orphan medicines that have been authorized at the EU level?
A list of the latest marketing authorisations and orphan medicinal products designations is available here.
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.
How can I find out a treatment for my disease is available in my country?
For more information on what treatments are available in your country please contact your national competent authority.
An orphan medicine has been authorised at the EU level but isn’t available in my country, why?
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.
What is off-label use of a treatment?
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”.
Can I access a treatment in another country through cross-border healthcare? How?
EU citizens have the right to access healthcare in any EU country and to be reimbursed for care abroad by their home country.
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.
How can I access an unauthorised medicine through a compassionate use programme?
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.
Are there other mechanisms in place to bring rare disease medicines to patients more quickly?
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.
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 advocated for the approval of this HTA regulation during these last years and for the implementation of the consequent cooperation.
What is EURORDIS doing to improve patients’ access to rare disease treatments?
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.
What is health technology assessment (HTA)?
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.
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.
Patient engagement in the development of medicines for rare diseases
How can I get engaged in the development process of medicines for rare diseases?
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.
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
What tools are available to guide the engagement of patients in the research and development of medicines for rare diseases?
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.
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.
- How can I find an ongoing clinical trial for a particular rare disease?
- How can I advocate to get access to an orphan medicine in my country?
How does EURORDIS engage with companies developing rare disease orphan medicines?
EURORDIS engages in dialogue with companies through the EURORDIS Round Table of Companies.
Safety of orphan medicines
How can I report a side effect or adverse effect of a medicine?
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.
See information on how you can report adverse events and side effects of a medicine.