October 3, 2014
As the number of discovered rare diseases continues to increase, the search for innovative methods to understand rare disease complexity and bring about novel therapies has also accelerated over the past decade. In an editorial published in the Journal of General Internal Medicine in August, Kesselheim and Gagne introduce a series of fourteen articles on innovative approaches to study rare diseases, optimize data sources, involve patients in research and develop health policy.
In their article, Retsch-Bogart et al. propose measures to identify strong clinical research teams to lead research on rare diseases.
Five further articles explore methods of collecting and optimizing use of data on rare diseases. Nigwekar et al. and Royer et al. propose novel processes to analyze data on rare disorders and identify patients. Krischer et al. describe the Rare Disease Clinical Network. The article describes the network of consortia to collect data, connect with patients and support clinical studies. Thompson et al. describe the experience of RD-Connect, a platform to integrate data from registries, genomics, biobanks and bioinformatics. Maro et al. describe novel approaches to post market pharmacovigilance for orphan drugs.
Three articles describe the role of patients in rare disease research and orphan drug development.
Thyen et al. evaluate patient care satisfaction in certain rare disease groups. Poon et al. study the long term impact of chronic rare disease on quality of life. Forsythe et al. explore methods of engaging patients in research.
Finally, four articles explore regulatory, economic, social and ethical issues concerning the benefits of rare disease treatment and health outcomes. Abrahamyan et al. describe value-of-information methods to assess the cost-benefits of expensive treatments for rare diseases. Winquist et al. describe the Canadian experience of developing a framework for orphan drug reimbursement decisions. Pariser and Gahl present general advances in translational approaches to advance drug discovery for rare diseases. Finally, Basch and Bennett describe the relevance of incorporating patient-reported outcomes into clinical trials on rare diseases.