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Chapter 5128Future outcome measure landscapeBecause of the overgrowth of available outcome measurement instruments, clinical researchers need guidance in choosing appropriate outcome measures in clinical trials. Regulatory agencies, such as the European Medicines Agency (EMA) and FDA, encourage maintaining consistency in assessment methods and are placing focus on capturing the patient experience, but poorly defined PRO objectives have hindered the utility of PROs in regulatory decisions.67,72 A core outcome set or generic measure with disorder- or comorbidity-specific extensions may provide a solution to ensure generalizability and interpretation, and effectively target specific phenotypes in individuals with GNDs and ID. To move from this ‘mess of measures’ to a more unified approach for future interventional research for GNDs and ID, the field could take the following steps: y Reach (international) consensus on outcomes (e.g., Delphi procedure) and establish a core outcome set for individuals with GNDs and ID: terminology and constructs should be relevant, clear, harmonized and operationalized, in collaboration with affected individuals, caregivers, and (methodological and clinical) experts.y Reach (international) consensus on the most suitable instruments to be selected per outcome, taking into account relevance, applicability, patient preferences, validity, reliability, responsiveness to change, and language and culture barriers. Some instruments may need to be adapted to individuals with ID. y Implement the core outcome set or (ID-friendly) generic measure(s) with appropriate versions for different levels of ID. This could be extended with disorder- or comorbidityspecific measures (e.g., symptom checklists) to cover relevant condition-specific aspects. Strengths and limitationsThis scoping review is the first rigorous overview of outcomes and outcome measurement instruments used in clinical trials in GNDs and ID, examining the broad array of outcomes related to health manifestations common in Annelieke Muller sHL.indd 128 14-11-2023 09:07