Rare Diseases and Orphan Drugs

Biography

Biography: Andria Hanbury

Abstract

Statement of the problem. Challenges in developing patient reported outcomes strategies for orphan drugs include identifying, recruiting and retaining patients in clinical trials, often from multiple countries. Study design issues including identifying suitable end points and comparators, and then how to measure selected end points. Often there will not be a suitable patient reported outcome measure (PRO) already available, leading to the need to invest time and resource in developing a new PRO, or in identifying, adapting and validating existing measures. Nonetheless, PROs, which are an increasingly important endpoint for clinical trials in general, are especially important for rare diseases research, where the patients’ quality of life is often a primary end point. Whilst generic off the shelf PROs do exist, disease specific PROs are preferable in that they pick up on the nuance of living with a specific rare disease, and, essentially, measure what is important to patients. Indeed, researchers and clinicians’ may not always be wholly cognizant of the nuances of living with a rare disease; this is why patient involvement in the development of a PRO is an important criteria on which PROs within trials are judged by regulatory bodies. Recommendations. To facilitate the identification and subsequent development or adaptation and validation of a robust PRO, patient advocacy groups can play a pivotal role in gaining support for a study and advising on patient recruitment. However, expertise is also needed in systematically reviewing PROs to identify whether there are any existing and robust measures available. And, if there are not, psychometric expertise is then also needed in PRO development and or adaptation and validation, including potentially the validation process for migrating from paper based PROs to electronic PROs. As each of these components at the study design stage is often an unknown, and takes time to do robustly, early stage consideration of the patient reported outcomes strategy is especially important for rare diseases research. This presentation will outline these issues, with the aim of raising awareness of the challenges and facilitating timely consideration regarding the involvement of PROs in rare diseases research.