Seltene Krankheiten

Abstract

Rare diseases are defined by lifetime prevalence and are a medically heterogeneous group. Treatment options and the state of knowledge about these diseases are also very heterogeneous, as well as the respective needs for research. This article provides an overview on funding programs in Germany, further examples of countries within Europe and the European Commission, and a few examples of research networks. It is one of the goals of the article to show similarities and differences between the funding programs. The funding organizations of most countries and the European Commission (FP7) fund research on rare diseases with programs in which researchers define the contents in bottom up approaches. While, in general, basic science is well established, the translation of knowledge into clinical benefit for the patients is slow. Because of the low prevalence and geographic distribution of patients and researchers, research on rare diseases suffers from infrastructural deficits. While France, Germany, Italy and Spain have implemented research programs which are specific for rare diseases and aim to support networking of scarce resources and to stimulate interdisciplinary collaborations, other countries fund research on rare diseases within the context of general programs.

Orphan drugs and paediatric medicinal products

“…111 The orphan drug status enables a simplified approval procedure in Switzerland. 112 Contrary to other European countries, 113 Switzerland has still no national strategy for rare diseases. Problematic in many cases is also the assumption of costs for orphan drugs by social security.…”

Basic Principles of Health-Related Quality of Life in Parents and Caregivers of Pediatric Surgical Patients with Rare Congenital Malformations—A Scoping Review

“…[4][5][6] Of the $30,000 diseases known today, 5,000 to 8,000 are classified as rare diseases. [7][8][9][10] The term "rare diseases" bundle several very different clinical pictures, since the definition is made exclusively via lifetime prevalence. 9 The European Union has defined that a rare disease is one that affects less than 5 in 10,000 people.…”

“…[7][8][9][10] The term "rare diseases" bundle several very different clinical pictures, since the definition is made exclusively via lifetime prevalence. 9 The European Union has defined that a rare disease is one that affects less than 5 in 10,000 people. [7][8][9] Rare diseases are not always but very often congenital.…”

“…9 The European Union has defined that a rare disease is one that affects less than 5 in 10,000 people. [7][8][9] Rare diseases are not always but very often congenital. They are often chronic and progressive.…”

Zulassung und Erstattung von Orphan Drugs im internationalen Vergleich

“…In der Schweiz und in Australien werden keine Steuervorteile f ü r Orphan Drugs gew ä hrt [3] . Au ß erhalb krankheitsspezifi scher F ö rderma ß nahmen f ü r Orphan Drugs werden in allen betrachteten L ä ndern zus ä tzliche F ö rderprogramme f ü r die Grundlagenforschung bei seltenen Erkrankungen angeboten [20] . In Australien, Deutschland, Frankreich, den Niederlanden und den USA existiert au ß erdem eine gesonderte krankheitsspezifi sche F ö rderung von Forschungsprojekten f ü r seltene Erkrankungen.…”