When is a disease considered rare?

Rare diseases

In the European Union, a disease is considered rare if it affects no more than 5 in 10,000 people in the EU. Since there are more than 6,000 different rare diseases, the total number of those affected is high despite the rarity of the individual diseases. In Germany alone, it is estimated that around four million people live with a rare disease (SE), and it is estimated that there are 30 million people in the entire EU.

Rare diseases form a very heterogeneous group of mostly complex clinical pictures. What all rare diseases have in common is that they are mostly chronic, are associated with health restrictions and / or limited life expectancy and often lead to symptoms as early as childhood. About 80 percent of rare diseases are genetic or partly caused; they are rarely curable.

Rare diseases have some peculiarities: These primarily include the small number of patients with a rare disease, a supra-regional distribution that makes it difficult to conduct studies and a small number of spatially distributed experts who work on a rare disease and provide care to ensure. Also, the ways to good treatment and care options are often not clearly visible. This also leads to the fact that those affected often feel left alone with their illness and a diagnosis is usually made significantly delayed.

The rarity of the individual diseases often complicates research and medical care for the affected patients for medical and economic reasons. Diagnosis and therapy of the diseases pose special challenges for all those involved (those affected, relatives, medical, therapeutic and nursing staff).

Medical care for patients and access to doctors, specialists and specialist clinics are good in Germany. New, innovative drugs - including those that are specifically marketed for the treatment of rare diseases - are quickly available to patients. For early diagnosis, there are screening programs with which certain rare diseases can be reliably detected and treated immediately, such as phenylketonuria. Newborn screening measures 13 target diseases, most of which are rare.

Research report of the BMG on the situation of people with rare diseases

In August 2009 the BMG published a research report entitled "Measures to improve the health situation of people with rare diseases in Germany". The aim was to analyze the current supply situation for people with rare diseases in Germany, to derive priority fields of action and suggestions for improvement and to develop solution scenarios.

In summary, the study comes to the following key results:

  • In Germany's pluralistically structured health care system, sustainable improvements in the prevention, diagnosis and therapy of rare diseases can only be achieved if it is possible to bundle initiatives and bring about joint, coordinated and goal-oriented action by all actors.
  • To improve the health situation in the field of rare diseases, the introduction of a National Action Plan be useful for people with rare diseases. This should correspond closely with the corresponding developments at EU level. This National Action Plan was presented to the public on August 28, 2013.

National Action Alliance for People with Rare Diseases (NAMSE)

On the initiative of the BMG, the Federal Ministry of Education and Research (BMBF) and the ACHSEe. V. (Alliance Chronic Rare Diseases), an umbrella association of self-help organizations in the field of rare diseases, founded the National Action Alliance for People with Rare Diseases (NAMSE). It now consists of 28 alliance partners (top and umbrella associations of the major players in the health care system).

National Action Plan for People with Rare Diseases

In August 2013, the National Action Plan for People with Rare Diseases was published with 52 proposed measures. In November 2019, a status report on the implementation of the proposed measures was published on the NAMSE website. The overarching goal of this action plan is to improve the health situation of those affected in Germany. The core element is the development of a center model in three interlinked levels (reference, specialist and cooperation centers), which are structured according to the division of labor, with which expertise is to be bundled and research in the field of rare diseases is to be supported.

Decision of the Federal Joint Committee on Centers for Rare Diseases

In 2015, the Hospital Structure Act created the possibility of agreeing surcharges for special tasks from centers and focal points, which can also be applied to centers for rare diseases. The Federal Joint Committee (G-BA) passed a resolution on December 5, 2019, on the basis of which surcharges can be agreed on site, provided that the federal states have identified appropriate centers and that these meet the requirements of the resolution . The special tasks relate predominantly to cross-patient services from centers for rare diseases - such as B. the creation of a register or a supply atlas to inform those affected. Surcharges can only be agreed for tasks or services that are not already remunerated elsewhere. These flow in addition to the treatment costs for the individual patients.

Activities at European level

The Recommendation of the Council of the European Union for European Action in the Field of Rare Diseases of 2009 recommended that the Member States, among other things, set up centers and develop plans to control measures in the field of rare diseases. With the "National Action Plan for People with Rare Diseases" Germany is implementing this recommendation.

Improving the care of patients with rare diseases is also a concern of EU Directive 2011/24 / EU on the exercise of patients' rights in cross-border healthcare. This directive provides for the establishment of so-called "European Reference Networks (ERN)", the main aim of which is to improve access to diagnosis and the provision of high-quality health care for all patients whose health problems require an increased concentration of resources. In particular, research and diagnosis of rare diseases is improved by such a concentration of specialist knowledge. The ERN started their work in March 2016. Around 1000 highly specialized units from 370 hospitals in 26 countries (25 EU countries and Norway) take part in the 24 networks across Europe. A list of the approved ERN can be found on the website of the European Commission. German coordinators are responsible for four of the 24 networks. From Germany alone, more than 120 institutions participate in the ERN. The ERN should be expanded in the future and in particular be able to accept additional members. In a second application round by the end of November 2019, over 800 healthcare providers applied to join one of the 24 existing ERNs and support them with their expertise.

Outpatient specialist medical care (ASV)

In order to improve the care of patients with rare diseases in particular, the legislature introduced the area of ​​outpatient specialist medical care with the new version of Paragraph 116b of Book V of the Social Code (SGB V) through the Statutory Health Insurance Supply Structure Act. In Paragraph 116b, Paragraph 1 of Book V of the Social Code, a number of rare diseases and disease states with correspondingly low case numbers are listed. For registered contract doctors in hospitals, the same qualification requirements and uniform conditions for outpatient provision of services apply in the area of ​​specialist medical care.

The Federal Joint Committee (G-BA) has to define the care area of ​​outpatient specialist medical care in more detail in a corresponding guideline and to make further regulations, among other things, to specify the diseases and the scope of treatment, to material and personal requirements for the provision of services as well as other requirements for quality assurance . For some rare diseases, the G-BA has already regulated the design of the ASV (for more information, see: https://www.g-ba.de/linien/80/) In addition, in accordance with Section 116b (5) SGB V, the G-BA can in future add further (rare) diseases or highly specialized services to the catalog specified in the law at the request of an applicant (e.g. the sponsoring organizations, the impartial parties or the patient organizations).

Funding measures and pharmaceuticals

There are a number of rare diseases that still cannot be properly identified and treated. In order to improve the situation, research into diagnostic and therapeutic measures for rare diseases is being promoted.

Orphan drugs are drugs for rare diseases that are life-threatening or serious and for which there are no or no satisfactory treatment options, or which have a significant benefit compared to therapeutic measures that are already available. Often, genetic defects are the cause of such diseases, so that children and newborns are disproportionately affected.

Due to the small markets for orphan drugs, it may not be attractive for companies to develop drugs for rare diseases under regular conditions, as an amortization of the research and development expenditure may not be achieved. Against this background, special facilities were created for the development of orphan drugs.

In order to compensate for the economic disadvantage of orphan drugs, the European Parliament and the Council have issued Regulation (EC) No. 141/2000 on medicinal products for orphan drugs (the so-called "Orphan Drug Regulation"). This aims to create incentives for research, development and marketing of orphan drugs and to establish a Community procedure for designating drugs as orphan drugs. Central approval has been binding for orphan drugs since November 2005.

A medicinal product can be given the status of orphan drug if no more than 5 out of 10,000 people in the European Union are affected by the disease, the disease is life-threatening or chronic disability and for them there has not yet been a satisfactory method for the Diagnosis, prevention or treatment of the condition in question has been approved or the medicine in question will be of significant benefit to those affected by the condition.

In April 2021, 125 medicinal products were approved as orphan drugs in the EU. A total of 197 medicinal products have been approved since the implementation of Regulation (EC) No. 141/2000, but some of their orphan drug status has expired after ten years or has been returned by the company or which are no longer marketed.

Companies must apply for orphan drug status for a drug before it is approved, which is checked again at the time of approval or a significant extension of the indication. If the drug is approved and maintains orphan drug status in the event of approval / extension of the indication, it is retained in the EU