Austrian Pompe Outcome Consensus (APOC): a national Delphi study.

Area of Science:

• Rare disease management
• Clinical guideline development
• Patient outcome monitoring

Background:

• Lack of evidence-based guidelines for Pompe disease follow-up assessments.
• Need for standardized monitoring to optimize therapy and detect complications early.
• Initiation of the Austrian Pompe Outcome Consensus (APOC) Study to address this gap.

Purpose of the Study:

• To establish a consensus on essential and situation-specific follow-up assessments for Pompe disease.
• To develop evidence-based guidelines for Pompe disease monitoring in Austria.
• To optimize individualized patient care and therapeutic interventions.

Main Methods:

• Utilized a Delphi process with online and modified rounds (September 2023-May 2024).
• Followed the AWMF S2k guideline, involving 23 clinical experts with high response rates.
• Developed a questionnaire based on literature review and expert workshops, rating assessments using AGREE II thresholds and AWMF classification.

Main Results:

• Achieved consensus on 34 statements regarding Pompe disease follow-up assessments.
• Strongly recommended tests include 6-minute walk test, functional tests (Pompe PEDI for children), muscle strength assessments, and patient-reported outcomes.
• Further recommendations encompass respiratory function, creatine kinase levels, antibody titers, imaging, and psychosocial care.

Conclusions:

• The APOC Delphi consensus provides AGREE II-compliant recommendations for Pompe disease follow-up in Austria.
• The methodology facilitated a structured and efficient consensus-building process.
• The approach is suitable for similar guideline development in other rare disease contexts.