When we identify therapeutic options with sufficient preclinical evidence, our goal is to bring the therapy to the patient with a rare disease and assess its effectiveness. This includes both novel (experimental) and existing therapies (such as drug repurposing, nutritional therapies) in clinical care and research settings. By using innovative methodologies, master protocols, and systematic evaluations - including patient-reported outcome measures - we accelerate the application and evaluation of therapies and enable personalized evidence-based medicine.

Generating evidence on effectiveness for rare disease therapies can be challenging. At the Therapy Clinic, we use our ‘Indicating-Performing-Monitoring triad’ to tailor the right therapeutic strategy based on unique phenotypes and genotypes.

Our triad addresses:
1. Identifying the best possible therapy based on evidence of therapeutic targets, mechanism of action, pathophysiology, patient characteristics, and the clinical need;
2. Selecting an appropriate study design, considering the desired level of evidence, patient burden, pharmacovigilance, and suitable comparators;
3. Defining relevant endpoints, including type, relevance, validity, and responsiveness of outcome measures, frequency of measurements, interim analyses, and data collection.

Innovative trial designs, combined with the latest knowledge on therapeutic strategies, help generate high-quality evidence on treatment effectiveness, safety, and tolerability.

For more information on trials, outcomes, and evidence, see Therapy Clinic and the Interactive Toolbox .