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 …

Introduction For many rare diseases, strong analytic study designs for evaluating the efficacy
and effectiveness of interventions are challenging to implement because of small …

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 …

Background Rare diseases present a challenge to guideline implementation due to a low
prevalence in the general population and the unfamiliarity of healthcare professionals …

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 …

The rare disease community suffers from the absence of reliable epidemiological data on
the prevalence and incidence of rare diseases in the national and global populations. The …

Background Conducting clinical studies in small populations may be very challenging;
therefore quality of clinical evidence may differ between rare and non-rare disease …

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

Despite growing acceptance of patient registries and natural history studies to provide useful
information, the rare disease community suffers from the absence of reliable epidemiological …

Rare diseases are a global public health priority; they can cause significant morbidity and
mortality, can gravely affect quality of life, and can confer a social and economic burden on …