Background Although stakeholder involvement in policymaking is attracting attention in the
fields of medicine and healthcare, a practical methodology has not yet been established …

Background Although rare diseases (RD) are increasingly becoming a priority for healthcare
activities and services around the world, developing research policy for investigating RD in …

Patient involvement (PI) in determining medical research priorities is an important way to
ensure that limited research funds are allocated to best serve patients. As a disease area for …

ABSTRACT BACKGROUND Patients with rare diseases have limited access to useful
information to guide treatment decisions. Engagement of patients and other stakeholders in …

Background Evidence-based clinical practice is challenging in all fields, but poses special
barriers in the field of rare diseases. The present paper summarises the main barriers faced …

People with rare lysosomal storage diseases face challenges in their care that arise from
disease complexity and heterogeneity, compounded by many healthcare professionals …

Plain English summary Patients with rare diseases often help to develop new treatments for
their conditions. But once developed, those treatments are sometimes priced too high for …

Background For many rare diseases, few treatments are supported by strong evidence.
Patients, family members, health care providers, and policy-makers thus have to consider …

Objectives: Rare diseases are often heterogeneous in their progression and response to
treatment, with only a small population for study. This provides challenges for evidence …

Abstract Background Rare diseases (RDs) may impose a considerable financial burden on
patients and their families. Public acceptance is essential to ensure sustainable public …