Rare Diseases Medicines

In Europe, a rare disease is defined as a life-threatening or chronic disease or condition affecting fewer than 5 in 10,000 people – which means that there are approximately 3.5 million people in the UK and 30 million people across Europe suffering from a rare disease. There are between 6,000 and 8,000 known rare diseases, and only about 5% of these have an approved treatment option. This dashboard provides an overview of emerging rare disease medicinal products currently monitored by the NIHR Innovation Observatory on our internal database, Medicines Innovation Database (MInD). It provides the user with the details of the clinical trials targeting the prevention and/or treatment of rare diseases.

The NIHR Innovation Observatory (IO) aims to identify innovative medicines that may be launched in the United Kingdom within 5 years of receiving a product licence (Marketing Authorisation). We identify such technologies by systematically scanning primary and secondary information sources, including clinical trial registries {ClinicalTrials.gov, European Union Regulating Authorities Clinical Trails Database (EudraCT)}, Pharmaprojects and Trialtrove (Citeline), European Union published designations, press releases, news sources, and direct engagement with companies.

Once identified, information about the innovative medicine is added to the IO’s horizon scanning database (Medicines Innovation Database) as a ‘Technology record’ which includes details about the intervention, indication, clinical trials (phase I/II, II/III, III or pivotal phase I), company information, and regulatory information. The information contained in this Rare Disease Medicines Dashboard relates to new and repurposed medicines currently in clinical trials which are commercially sponsored or linked to an industry. The clinical trial locations include the UK, Europe, USA, Canada, Australia and more recently, Japan and Singapore.