Table 1 Data set for rare disease patient registries recommended for European Cooperation (Version 3.0), based on the French minimal data set RD MDS v1.08
Item group | Item no | Item concept | Question | Content coding | Data collection (one-time/repeatedly) | Comment |
|---|---|---|---|---|---|---|
1. Pseudonym | 1.1 | Patient’s Pseudonym (PID) | Patient’s Pseudonym (as defined in the meta-data-set) | String | One-time |  |
2. Personal Information | 2.4 | Patient’s date of birth | Patient’s date of birth as recorded on the birth certificate | Date | One-time |  |
2.5 | Gender | Patient’s gender | Female Male Undetermined Unknown (for the foetus) | One-time |  | |
3. Family Information | 3.1 | Patient born from a relationship between related parties | Is the patient born from a relationship between related parties | Yes No Unknown | One-time | Â |
4. Vital status | 4.1 | Patient’s vital status | Is the patient still alive? | Yes No Lost to follow-up Discharged from registry | Repeatedly | Update of the data base at least once per year |
4.2 | Patient’s date of death | Patient’s date of death | Date | One-time | Update of the data base at least once per year | |
4.3 | Death due to rare disease | Is the death due to the rare disease the patient is suffering from? | Yes No Unknown | Â | Â | |
5. Care pathway | 5.1 | Patient’s date of inclusion in the registry | Date at which the patient was included in the registry | Date |  |  |
6. Disease history | 6.1 | Age at onset | Age at which symptoms first appeared | Antenatal At birth XX year (s) and XX month (s) Undetermined | Â | Â |
6.2 | Age at diagnosis | Age at which the diagnosis was made | Antenatal At birth XX year (s) and XX month (s) Undetermined | Â | Â | |
7. Diagnosis | 7.2 | Diagnosis of the rare disease | Diagnosis retained by the RD center | Alpha code | Â | Â |
8. Research | 8.1 | Agreement to be contacted for a protocol | Does the patient give permission to be contacted for a research protocol? | Yes No | Â | Â |
8.2 | Patient non-opposition to the reuse of data | Does the patient give permission for his/her data to be reused for other research purposes? | Yes No | Â | Â | |
8.3 | Patient having previously given a biological sample for research | Has the patient already given a biological sample for research? | Yes No | Â | Â | |
8.4 | Patient having previously given a biological sample for molecular diagnosis | Has the patient already given a biological sample for molecular diagnosis? | Yes No | Â | Â |