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 |