Background Rare diseases (defined as affecting< 1 in 2000 Europeans) may collectively
affect up to approximately 8% of the population. The low prevalence of individual diseases …

Background Rare diseases affect as many as 60 million people in the United States and
Europe. However, most rare diseases lack effective therapies and are in critical need of …

Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …

Abstract Background In 2005 the Italian Medicines Agency (AIFA) started a program on
independent research on drugs, with the aim to promote clinical research in areas of limited …

Abstract Background Rare disease registries (RDRs) are valuable tools for improving
clinical care and advancing research. However, they often vary qualitatively, structurally, and …

Background Alleviating the burden of rare diseases requires research into new diagnostic
and therapeutic strategies. We undertook a systematic review to identify and compare the …

Objectives Due to the widely-dispersed small number of patients with a given rare disease
(RD), there is generally a lack of validated biomarkers and endpoints in RDs. This poses a …

Introduction Rare disease research has specific challenges that can be addressed using
registries. Areas covered There are at least three different types of registries: patient …

Background Evidence-based clinical practice is challenging in all fields, but poses special
barriers in the field of rare diseases. The present paper summarises the main barriers faced …

Background For many rare diseases, few treatments are supported by strong evidence.
Patients, family members, health care providers, and policy-makers thus have to consider …