Design, development and deployment of a web-based patient registry for rare genetic lipid disorders

Area of Science:

• Medical Genetics
• Metabolic Disorders
• Bioinformatics

Background:

• Rare genetic lipid disorders are monogenic disorders of lipoprotein metabolism, excluding heterozygous familial hypercholesterolaemia (FH).
• Patient registries are crucial for disease monitoring, clinical practice improvement, research facilitation, and therapeutic development.
• Existing disease-specific registries for rare genetic lipid disorders are scarce.

Purpose of the Study:

• To design, develop, and deploy a web-based patient registry for rare genetic lipid disorders.
• To establish a platform for longitudinal data collection on 13 rare genetic lipid disorders, with future expandability.
• To leverage the FH Australasia Network (FHAN) Registry model and the open-source Rare Disease Registry Framework (RDRF).

Main Methods:

• Development of a web-based patient registry using the Rare Disease Registry Framework (RDRF).
• Adaptation of the established FH Australasia Network (FHAN) Registry infrastructure.
• Implementation of a system for capturing longitudinal data on multiple rare genetic lipid disorders.

Main Results:

• Successful design, development, and deployment of the Rare Genetic Lipid Disorders Registry.
• The registry is based on the RDRF, ensuring efficient customization and sustainable deployment.
• The registry is capable of capturing longitudinal data for 13 specific rare genetic lipid disorders.

Conclusions:

• The developed registry provides a critical tool for monitoring and research in rare genetic lipid disorders.
• The web-based, adaptable framework allows for future expansion across Australia and internationally.
• Data collected may significantly improve the diagnosis, management, and treatment of these rare conditions.