How should be determined what to collect in a rare disease registry? In particular, when there are no guidelines or good systematic reviews with meta-analyses and when the collected data should be useful for multiple purposes, including academic research, drug development, and HTA/regulatory decision-making. The MLD initiative decided to perform an international expert-based consensus procedure. A group of international MLD experts extensively discussed all the items that could be collected. Patients, patient representatives, HTA experts, and regulators were consulted. The MLDi also closely collaborates with the National Health Care Institute as part of the Managing patient registries for on Expensive Drugs program. This consensus procedure represents a nice step forward towards uniform data collection in the MLD field.
The complete procedure and list of data elements is published in the Orphanet Journal for Rare Diseases. You can view the publication via this link: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02189-w