Neurological disorders are the leading cause of global disability. However, for most people
around the world, current neurological care is poor. In low-income countries, most …

Background Patient registries provide long-term, real-world evidence that aids the
understanding of the natural history and progression of disease, and the effects of treatment …

Rare diseases are an important public health issue with high unmet need. The introduction
of the EU Regulation on orphan medicinal products (OMP) has been successful in …

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 …

Highlights•Next-generation sequencing technology accelerates rare disease research.•
Accumulated genomics information aids orphan drug development.•Novel drug …

Clinical implementation of two recently approved antisense RNA therapeutics–Exondys51®
to treat Duchenne muscular dystrophy (Duchenne MD) and Spinraza® as a treatment for …

Sickle cell disease (SCD) is the most common inherited blood disorder and affects
approximately 100,000 individuals in the United States, primarily those of racial and ethnic …

Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare
lysosomal storage disease with progressive multisystem manifestations caused by deficient …

Rare kidney diseases encompass at least 150 different conditions, most of which are
inherited. Although individual rare kidney diseases raise specific issues, as a group these …

Background Research into rare diseases is becoming more common, with recognition of the
significant diagnostic and therapeutic care gaps. Registries are considered a key research …