According to the ERN-RND network agreement, every ERN-RND HCP has to submit data of all patients that were seen in one full calendar year in the scope of ERN-RND and that have consented to this data collection. This includes patients without determined diagnosis. Since 2021 ERN-RND has been collecting data in the ERN-RND registry, the number of HCPs which are able to submit data has been increasing every year.
For this aggregate data analysis, we have mainly used the datasets which were submitted HCPs in 2024 (data collected in 2023). Some indicators were compared to those from data collected in 2022 and 2021. In 2024, 38 HCPs have submitted data to the ERN-RND registry, which comprises 8003 datasets in total. In 2023, 28 HCPs had submitted data comprising 4940 datasets and in a pilot phase 8 HCPs had submitted 1872 datasets. Every dataset refers to one patient. Not all data could be included in each analysis due to incompleteness of some datasets.
A respective OMIM code has been assigned to patients with a determined genetic diagnosis. The OMIM code sample of 2023 comprises 237 different genes. The ten most frequently used OMIM codes are shown in the table below.
The following key indicators are shown in the figures underneath:
- Number of HCPs submitting data per country
- Number of patients in total
- Number of patients per country
- Number of patients per disease group in total
- Number of patients per disease group regarding Orphacodes
- Number of patients with/without genetically determined diagnosis
Number of HCPs submitting data per country
Number of patients in total
Number of patients per country
Number of patients per disease group in total
Number of patients per disease group regarding Orphacodes
Number of patients with/without genetically determined diagnosis
Most frequently used OMIM codes