SAT-849 - Scientific Output and Impact of Rare Endocrine Disease Registries: A Quantitative Exploratory Analysis

Background
Registries for rare endocrine diseases aim to pool scarce clinical data to further knowledge about these conditions and to support research, guideline development, and clinical trials. Although many such registries have been created, their scientific output and translational impact have rarely been examined in a systematic and quantitative way.
Objective
To assess the scientific output and guideline impact of registries devoted to rare endocrine conditions and to explore registry characteristics associated with greater impact.
Methods
An exploratory search identified 152 initiatives described as rare endocrine disease registries. Registries were included if they met our operational definition, had ≥8 y of documented activity, enrolled 700-7000 patients, and had produced registry-derived publications. Scientific output was assessed using a composite Registry Impact Index (RII), integrating annualized publication output, citation impact, production of highly cited papers, and contribution to clinical guidelines. Associations between RII and registry characteristics were explored using Spearman correlations, with sensitivity analyses using alternative weighting schemes.
Results
Fourteen registries met all inclusion criteria. Time from registry inception to first publication was substantial (median 5 years, range 3–13). Publication trajectories differed between registries, some showing sustained output over time, while others appeared to plateau despite longer duration. This may relate to patient accrual, coexistence of parallel registries, and practical difficulties in maintaining funding and long-term investigator involvement. Among 116 true original registry-derived studies, most relied on retrospective cross-sectional designs, while purely prospective longitudinal studies accounted for only 7% (8/116). Contribution to clinical guidelines was limited: only 10 studies (8.6%) reached a guideline output score indicating a substantive contribution. Guideline contribution was strongly associated with publication output (true original studies per year, Spearman ρ = 0.71, p = 0.004) and with annual citation rates (ρ = 0.69, p = 0.006). The median RII was −0.27 (IQR −0.61 to 0.75; range −1.13 to 1.90), reflecting marked heterogeneity in scientific output. Registry size, disease rarity, governance model, industry involvement, geographic scope, maturity, and data platform adaptability were not independently associated with RII.
Conclusions
Scientific output among rare endocrine disease registries is heterogeneous and characterized by long publication latency, limited prospective research, and modest integration into clinical guidelines. While exploratory and requiring replication, these findings point to missed opportunities to make better use of registries for prospective studies, clinical trials, and knowledge generation.

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