Page 299 - Demo

General discussion2979in the design, intervention, and outcome measures will greatly contribute to the enthusiasm of participants and will increase experienced relevancy.52Treatment Placebo Interimanalysis 1Placebo Treatment Interimanalysis 2Treatment Placebo Interimanalysis 3Treatment set 1 Treatment set 2 Treatment set 3Enoughevidence?Yes NoStop individualN-of-1 trialEnoughevidence?Yes NoStop individualN-of-1 trialStop individualN-of-1 trialBaseline (variable duration) TreatmentOption AOption BFigure 4. Possible options for trial designs to be presented to affected individuals or family members in a clinical trial service. Preferences should be discussed with regard to level of evidence, (un) blinded periods, the use of placebo, and interim analyses. Orange arrows indicate measurement of outcomes.Evidence-based care for individuals with RGNDs is challenging, but can be realized. It requires an ethical and methodological framework for trial designs as well as the selection of outcome measures that are relevant and measure what matters. A genetic diagnosis for individuals with ID may provide several benefits, including disorder-specific care, which is important for all involved healthcare professionals. Collaboration is key. Together with affected individuals, caregivers, clinicians, researchers, pharmacists, policy makers, and other experts, we can enable personalized, disorder-specific care for these vulnerable individuals.Annelieke Muller sHL.indd 297 14-11-2023 09:08