Table 3.

Essential disease-related data

Diagnostic	Age: Pediatric or adult Time to diagnose: Early (− 1 year) or late (+ 1 year) Quality of diagnosis: No diagnosis, misdiagnosis, diagnosis
Prevalence	Measure of prevalence Total number of patients Age distribution Mortality
Natural History Studies	Disease registries Evaluation of the burden Patient reported outcomes: Dynamic registries Disease progression models
Intervention	Patient-Centered Outcome Measures (IRDiRC Task Force) Standard of care Alternative/Innovative treatment Informed treatment response: Regulatory and effectiveness data