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

TL;DR

The APOC study created a consensus on follow-up assessments for Pompe disease to improve treatment and care.

Contribution

The study provides systematically weighted, AGREE II-compliant recommendations for Pompe disease follow-up assessments in Austria.

Findings

34 statements reached consensus on essential and optional follow-up assessments for Pompe disease.

Strong recommendations include functional tests, muscle assessments, and patient-reported outcomes.

The Delphi method proved effective for rare disease consensus-building in the Austrian healthcare context.

Abstract

Follow-up assessments form the basis for the continuous optimization of therapy and supportive care on an individual level, for confirming treatment efficacy, and for detecting newly emerging or unexpectedly progressive symptoms early enough to permit timely therapeutic intervention. For Pompe disease, evidence based guidelines on which assessments should constitute the minimum standard and which are required in specific situations only, were missing. Therefore, we started the Austrian Pompe Outcome Consensus (APOC) Study.

APOC was a Delphi process with two classical online and a modified third round, implemented September 2023–May 2024, following the AWMF S2k guideline. A five-member interdisciplinary steering committee invited 23 clinical experts, achieving response rates of 69.6% and 100%. A questionnaire was developed via literature scoping and an expert workshop. The importance and recommended frequency of follow-up assessments were rated using AGREE II consensus thresholds, and the classification for recommendation strength of the German Association of the Scientific Medical Societies (AWMF;Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften e. V.).

34 statements achieved consensus. Strong recommendations included the 6-minute walk test (6MWT), timed tests, Pompe PEDI and other age-appropriate functional tests in children, muscle tests, handheld dynamometry, Fatigue Severity Scale, patient-reported outcome measures (e.g. R-Pact), forced vital capacity (sitting/supine), morphologic muscle imaging studies, pain and quality of life assessment. Further recommendations included respiratory (MIP/MEP) and sleep studies (polysomnography), creatine kinase, antibody titers, swallowing studies, liver sonography, hearing tests and speech and speech/oromotor function, physical therapy and rehabilitation, bone density assessment, and caregiver psychosocial care.

The APOC Delphi consensus yields AGREE II–compliant, systematically weighted recommendations delineating essential and optional follow-up assessments for Pompe disease in the context of Austrian healthcare. The applied method enabled a structured and efficient consensus-building process and appears well suited for addressing comparable questions in other rare disease contexts.

Not applicable.

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