Table 1.

Themes and sub-themes related to patient input identified through patient workshops

Patient registries

Providing data

Providing information on disease and its impact on patients and families through natural history registries  Reporting on outcomes when receiving treatment  Participating in ongoing monitoring and data collection from the moment regulatory approval is obtained  Providing ‘subjective’ data, such as patient-reported outcomes (PROs) and patient satisfaction

Reimbursement process

Providing information on the patient experience

Presenting individual cases, as well as data that is difficult to quantify, through testimonials and presentation to decision makers Participate in the decision-making process  Providing input in the creation of decision parameters  Funding studies on cost of not funding a drug  Participating on decision-making panels, providing input and clarifying the input from patient submissions  Accepting when evidence of efficacy is insufficient Right to appeal  Presenting individual case when a negative funding decision has been made  Adding to submissions where information provided by the manufacturer was insufficient

Value definition

Defining value  Defining the meaningfulness of clinical outcome measures Designing endpoints  Providing input in the creation of endpoints that are relevant, meaningful, and functional

Clinical trials

Designing trials  Setting clinically meaningful endpoints  Setting patient inclusion/exclusion criteria for trial participation Providing data  Participating in clinical trials

Benefit–harm assessment

Input into benefit–harm trade-off acceptability decisions  Providing information on tolerance  Making final benefit–harm trade-off decision

Early studies and drug discovery

Input into research decisions  Guiding decisions regarding which rare diseases to focus on in research

Managed access

Providing information on the patient experience  Providing input into the design of a structured approach to collecting information on patient experiences Patient registries  Participating in registries as part of data collection for managed access plans Stopping criteria  Deciding on stopping criteria with input from a specialist with relevant expertise