OBJECTIVES: Patient-centric approaches are increasingly recognized as pivotal in rare disorder research, aiming to enhance care and outcomes tailored to individual patient needs. This systematic review explores various methodologies and outcomes of patient-centric approaches in rare disorder research.

METHODS: A systematic literature search was conducted across PubMed and Google Scholar databases between 2014-2024 to identify studies focusing on patient-centric approaches in rare disorder research. Keywords included "Patient-Centric," "Rare Disorders," "Patient Engagement," and related terms. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed to conduct this systematic review. Studies that addressed patient involvement, engagement, or patient-reported outcomes in rare disorders were included.

RESULTS: A total of 680 studies from database search and grey literature were screened, with 130 undergoing secondary screening. Ultimately, 16 studies met inclusion criteria and were included in the final analysis. The studies were globally distributed, with a majority from the United States (n=6), followed by Europe (n=6), and Asia (n=4). Methodologies and rare disorders covered included Cushing's syndrome (n=3), Castleman disease (n=2), Duchenne muscular dystrophy (n=2), and others (n=9). Patient-centric approaches in rare disorder research exhibited varied successes. Significant enhancements in healthcare efficiency were observed, particularly in reducing hospital stays and procedure times. Crowdsourced initiatives proved effective in fostering patient-centered agendas but showed limitations in generalizability. Challenges such as logistical barriers and biased participant advocacy hindered engagement. E-research methods displayed potential but encountered ethical and participation challenges. Validation of patient-reported outcomes highlighted issues like small sample sizes and incomplete symptom assessments, underscoring the need for more comprehensive research efforts.

CONCLUSIONS: Patient-centric approaches in rare disorder research show promising outcomes but face challenges such as limited generalizability and small sample sizes. Future research should focus on refining methodologies, improving inclusivity, and validating patient-reported outcomes to enhance the relevance and impact of patient-centric strategies in rare disorder management.