Rare Diseases & Orphan Drugs

Patient-Focused Outcomes in Rare Disease Research

Patient-focused outcomes are critical in rare disease research to assess the impact of interventions on patients' quality of life. Traditional clinical outcomes, such as survival rates and disease progression, may not capture the full extent of the impact of rare diseases on patients' daily lives. Patient-reported outcomes, such as symptom burden and functional status, can provide valuable information on the efficacy of treatments and the disease's impact on patients. Engaging with patients and their families to identify meaningful outcomes and incorporating patient-reported outcomes into clinical trial design and regulatory decision-making is essential. Collaboration between researchers, healthcare providers, and patient advocacy groups is critical to advancing patient-focused outcomes in rare disease research.