Edition of 31 May 2022

A new study has been published in the Orphanet Journal of Rare Diseases on the IRDiRC’s Working Group focusing on developing tools to assess the impact of diagnosis and therapies on rare diseases patients. The Working Group is a multi-stakeholder group that aims at providing tools through data and information collection to assess these therapies, as well as to evaluate the social and economic burden of rare diseases on patients and their caregivers. These tools include the quality of the diagnosis, the prevalence of the disease,natural history studies on the disease, as well as clinical interventions, such as patient-centered outcome measures and standard of care. The paper outlines its recommendations concerning the metrics needed for the development of new tools that could help speed-up and improve development, and improve impact-assessment of  diagnostic approaches and therapies on rare disease patients. This work is one stop forward towards IRDiRC's goal of "Enabling all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention” .