Mitochondrial disease registries worldwide: A scoping review

Area of Science:

• Genetics
• Rare Diseases
• Medical Informatics

Background:

• Mitochondrial diseases are diverse genetic disorders with diagnostic challenges.
• Lack of centralized registries in Canada hinders research and patient support.
• Registries are crucial for research, understanding disease progression, and improving management.

Purpose of the Study:

• To systematically map the global landscape of mitochondrial disease patient registries.
• To analyze registry designs, challenges, and outcomes.
• To inform the development of a Canadian mitochondrial disease patient registry.

Main Methods:

• Systematic scoping review using Arksey and O'Malley's framework.
• Searches of PubMed and CINAHL, supplemented by grey literature.
• Thematic analysis of extracted data and stakeholder consultations.

Main Results:

• 17 articles described 13 unique registries across North America, Europe, Australia, and West Asia.
• Registry designs, strengths, weaknesses, and outcomes (e.g., research recruitment, epidemiological studies) were detailed.
• Stakeholder input provided valuable real-world perspectives.

Conclusions:

• Recommendations for a new Canadian registry include clear objectives and patient engagement.
• Adopting international data standards and addressing privacy are essential.
• These findings support the creation of a Canadian registry and enhance global registry research.