This document provides a comprehensive summary of evidence on the current situation of
rare diseases (RDs) globally and regionally, including conditions, practices, policies, and …

Background The number of market approvals of orphan medicinal products (OMPs) has
been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for …

Rare disease patients face many challenges including diagnostic delay, misdiagnosis and
lack of therapies. However, early access to diagnosis and therapies can modify the …

Objective Lack of medical and scientific knowledge on rare diseases (RD) often translates
into limited research on them and a subsequent lack of understanding of their economic …

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of
infancy and early childhood. The progression of this illness causes a high degree of …

In order to address the main challenges related to the rare diseases (RDs) the European
Commission launched the European Reference Networks (ERNs), virtual networks involving …

Background As chronic conditions, rare and complex connective tissue and musculoskeletal
diseases (rCTDs) significantly affect the quality of life generating an impact on the physical …

Background It is estimated that at present there are over 10 million rare disease patients in
China. Recently an increased focus from policy perspective has been placed on rare …

Abstract Background Niemann–Pick disease type C (NP-C) is a progressive
neurodegenerative disorder with early infantile (< 2 years), late infantile (2–6 years), juvenile …

Recent interest in personalized medicine has highlighted the importance of research in
ethical, legal, and social issues (ELSI). Issues in ELSI research may be magnified in the rare …