RD-MON - Building a Rare Disease Monitor to Enhance Awareness for Patients with Rare Diseases in Intensive Care

Area of Science:

• Medical Informatics
• Rare Disease Research

Background:

• Rare diseases, affecting fewer than 5/10000 inhabitants, collectively impact many patients.
• Diagnosing and treating rare diseases is challenging, especially when patients have co-occurring common conditions.

Purpose of the Study:

• To develop and implement a clinical research study monitor for detecting rare diseases in routine clinical encounters.
• To enhance clinical awareness and improve documentation for patients with rare diseases.

Main Methods:

• The University Hospital of Gießen, part of the MIRACUM consortium within the German Medical Informatics Initiative (MII), configured a study monitor.
• The monitor was developed to identify patients with rare diseases during regular clinical encounters and trigger documentation requests.

Main Results:

• The system was successfully tuned to detect patients with Mucoviscidosis.
• Notifications were placed within the patient data management system (PDMS) for intensive care unit patients.

Conclusions:

• A clinical research study monitor can effectively identify patients with rare diseases in real-time.
• This approach enhances clinical awareness and facilitates improved patient data management for rare conditions.