RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry ^†

Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis. With the advance of genetic knowledge, several novel entities are being described, many of which represent rare or ultra-rare disorders. Disease registries are essential for systematically collecting longitudinal, multicentre clinical, genetic, and outcome data, enabling natural history studies, biomarker discovery, and genotype–phenotype correlations foundational to precision medicine and to access clinical trials [1]. While registries have been developed for some rare and ultra-rare neuropediatric disorders, most of them still lack a dedicated registry, limiting evidence generation and standardized care.

The RENDER project (RarE Neuropediatric Diseases Electronic Registry) is a multicentre initiative aimed at developing a centralized electronic registry for rare neuropediatric diseases, supported by the Mariani Foundation [2,3]. Its goal is to integrate and harmonize diverse research efforts into a unified digital platform that allows for accurate, standardized, and shareable data collection. RENDER is a REDCap-based [2,3], HPO-oriented (Human Phenotype Ontology [4]) registry with all forms and documentation provided in English, hosted by CBIM (Consorzio di Bioingegneria e Informatica Medica), which is GDPR (general data protection regulation)-compliant.

Specifically, RENDER is composed of 32 modular electronic case report forms (eCRFs); the structure is cross-sectional—to ensure flexibility in the inclusion of patients with different pathologies so that, depending on the disease and clinical picture, it may be required to fill some eCRFs but not others—and longitudinal—to allow the recording of follow-up data over time. eCRFs encompass six main areas: general data, neurological data, extra-neurological data, instrumental data, diagnosis (with a highly updated genetics section), and therapy. Patient-reported outcome measures (PROMs) and patient-reported experience measures (PREMs) are included as they were considered fundamental in the new perception of well-being. To further implement RENDER, additional modules can be built if necessary for specific diseases (e.g., novel quantitative scales can be added).

Access to RENDER is granted on a centre-specific basis (e.g., to hospitals, universities, or research centres). Each centre remains the sole controller of its own patients’ data and can only view its own records, with the possibility of the secure pseudonymization of patient IDs and data matching and sharing across sites under specific inter-centre agreements (for example, collaborative research projects or joint-controller contracts).

We believe that RENDER has many advantages: (1) it is simple: a single platform can be used for many different diseases; (2) economical: the costs of registry development and maintenance for each single rare and ultra-rare disease are minimized; (3) flexible: there is a possibility to include patients with a wide range of diseases, including complex phenotypes and patients who still lack a definite diagnosis; (4) harmonized: HPO-based standardized language is used in every field; and (5) translational: it includes longitudinal assessments, quantitative scales, and patient-related outcomes which are pivotal for “trial-ready” cohorts.