#RareDiseaseDay: Focusing on support to patients

Living with a rare disease is extremely challenging. Symptoms of rare diseases are diverse, unexpected and confusing. Research is usually limited and therefore knowledge is scarce. This may lead to delayed diagnosis, treatment and care, causing a huge amount of pain to the patients concerned and their families.

What are rare diseases?

In the EU, any disease affecting fewer than 1 in 2,000 people is considered rare. Approximately 5,000-8,000 distinct rare diseases affect between 6-8% of the EU population. In absolute numbers, this means that between 27 and 36 million people are living with a rare disease.

We at EMA are strongly committed to helping rare disease patients to have timely access to quality, effective and safe medicines.

The EU regulation for medicines against rare diseases, known as orphan medicines, aims to encourage the development and authorisation of treatments by providing incentives for developers. With an orphan designation, developers benefit, for example, from reduced fees and a time-limited protection from competition once the medicine is placed on the market.

EMA’s Committee for Orphan Medicinal Products, or COMP, is responsible for evaluating applications for orphan designation. In 2021, 175 of such applications were granted a designation, allowing them to benefit from the incentives under the EU Orphan Framework.

At the time of their marketing authorisation, the status of designated orphan medicines is reviewed to determine whether the information available to date allows maintaining the medicine's orphan status and granting the medicine ten years of market exclusivity. In 2021, COMP confirmed orphan designation for 19 medicines recommended for marketing authorisation that year.

In the last couple of years, EMA has put in place important initiatives to ensure faster and better access to treatments for rare disease patients.

• The Agency waived all fees for scientific advice to better support academics developing orphan medicines. Their scientific research is often at the source of novel methodologies and innovative medicines with a potential to benefit patients with rare diseases.
• A pilot project that started in 2021 aims to increase interaction between EMA’s human medicines committee, or CHMP, and patient groups during the evaluation of new medicines. The CHMP is now reaching out to relevant patient organisations at the start of the evaluation of a new marketing authorisation application with orphan status. This will allow patients to share their experience and concerns about their condition early on. By the end of 2021, patients had been involved in early dialogues for 28 orphan medicines in therapeutic fields such as haematology, oncology, neurology and endocrinology.
• EMA and the European Heads of Medicines Agencies also launched another pilot project to support the repurposing of medicines, which could lead to new treatment options for patients and include orphan medicines. The aim of this initiative is to support not-for-profit organisations and academia to gather or generate sufficient evidence on the use of an established medicine against a new disease, with the aim to have this new use formally authorised by a regulatory authority like EMA.

I welcome the #RareDiseaseDay 2022 campaign and its invitation for patients to share their stories, their colours. We at EMA are listening and engaging with the rare disease community and continue to work tirelessly towards a better availability of treatments for patients.