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 …

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

Background Clinical trials are typically designed using the classical frequentist framework to
constrain type I and II error rates. Sample sizes required in such designs typically range from …

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

BACKGROUND: Trial discontinuation and nonpublication represent potential waste in
research resources and lead to compromises in medical evidence. Pediatric trials may be …

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: Clinical trial registries are in widespread use to promote transparency around
trials and their results. Objective: To describe characteristics of drug trials listed in …

METHODS Cross-sectional analysis of clinical trials enrolling participants< 18 years old
registered at ClinicalTrials. gov from October 2007 to March 2020. Multivariable logistic …

Objective To examine methods for generating evidence on health outcomes in patients with
rare diseases. Design Methodological review of existing literature. Setting PubMed …

Background Low prevalence, lack of knowledge about the disease course, and phenotype
heterogeneity hamper the development of drugs for rare diseases. Rare disease registries …