Table 2 Comparison of the checklist with two example registries
From: Rare disease registries: potential applications towards impact on development of new drug treatments
Checklist elements | Area(s) | ECFS registry | Examples | DIPG registry | Examples |
|---|---|---|---|---|---|
Basic characterization | Patient characteristics | + | Patient code | + | Patient ID |
Demographic characteristics | + | Gender, date of birth | + | Gender, ethnicity | |
Disease aspects | Diagnosis | + | First, second mutation | + | Cranial nerve palsy, eye movements, pathologic diagnosis |
Co-morbidities | + | Cause of death | + | Â | |
Treatment | + | Antibiotics, pancreatic enzymes | + | Surgery, radiotherapy | |
Outcome variables (either for efficacy or safety) | Mortality | + | Survival | + | Survival |
Life impact | – |  | – |  | |
Pathophysiological manifestations | + | FEV1 | + | Cranial nerve palsy, eye movements |