Page 283 - Demo

General discussion2819Targeted therapies are increasingly becoming available for rare genetic neurodevelopmental disorders (RGNDs). The research described in this thesis illustrates the journey from a (genetic) diagnosis toward evidencebased treatments. First, targeted treatments ask for a diagnosis: without a diagnosis, a specific treatment might even not be considered and an affected individual might not be qualified to participate in clinical trials for new treatment options. Early diagnosis may be essential to prevent irreversible damage. Second, the question is whether a treatment is effective to enable evidence-based medicine and guidelines. Third, what do we consider effective? Clinicians and researchers should aim to measure what really matters to affected individuals. And finally, if effective, it could be questioned how the therapy will become accessible to the affected individual. Personalized care, i.e., the implementation of etiology-driven health monitoring and treatments with the potential of changing the disorder’s course,1 is paramount for improving health and quality of life. However, implementation of therapeutic interventions via clinical trials for patient populations that are rare and heterogeneous faces specific challenges in methodology, outcome measures, and financial, organizational and regulatory barriers. Therefore, a methodological framework and trial service are essential to optimize the potential of personalized care for both the affected individual and the concerning population. Upcoming interventions and treatment optionsThe opportunities for personalized and (targeted) therapies are drastically increasing for RGNDs and metabolic disorders. For a growing number of disorders, novel treatment targets are identified in both in vitro and in vivo studies, paving the way for personalized therapies. Precise genetic diagnoses may result in precise therapeutic approaches. However, translation of novel treatments to care may be cumbersome in terms of access and reimbursement, resulting in an unacceptable situation in which novel therapies do not reach the affected individual with lack of evidencebased care. Annelieke Muller sHL.indd 281 14-11-2023 09:08