Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani and Tania Stafinski; Orphanet Journal of Rare Diseases 201712:188 doi:10.1186/s13023-017-0738-6

Patients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i.e., orphan drug lifecycle).