Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to
identify through Internet searches and may vary in quality depending on the source and …

Background Because of their individual rarity, genetic diseases and other types of rare
diseases are under-represented in healthcare coding systems; this contributes to a lack of …

There are approximately 6000 rare diseases, and 80% of them are genetic. In Europe, a
disease is considered rare when it affects no more than one person in 2000. In France, two …

Introduction Rare diseases (RDs) are often chronic and progressive life-threatening medical
conditions that affect a low percentage of the population compared with other diseases …

IMAJ• VOL 18• JUNE 2016 tion to meet the needs of clinicians, and serves as a basis for
building the ICD-11 proposals of revision. In the meantime, the European Commission …

Abstract The European Union Committee of Experts on Rare Diseases was entrusted with
aiding the European Commission in a number of tasks, ranging from the monitoring of …

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 Rare diseases are a global public health priority. Though each disease is rare,
when taken together the thousands of known rare diseases cause significant morbidity and …

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 …

Objectives To provide a comprehensive characterisation of rare disease clinical trials
registered in ClinicalTrials. gov, and compare against characteristics of trials in non-rare …