gms | German Medical Science

Introduction: Congenital malformations of the abdomen and spine are rare disorders that usually require neonatal surgery and will be associated with lifelong health implications. Patient care for congenital malformations is decentralized in Germany, making it difficult to obtain large structured datasets, which would help to improve the management and quality of life of affected children [1].

Therefore, KiRaFe (KinderRegister für angeborene Fehlbildungen), a nationwide registry for congenital malformations, was initiated by the German Society of Pediatric Surgery with the primary goal of measuring the quality of care for selected malformations, including patients with multiple malformations [2].

Here, we present the development and current status of the KiRaFe registry and highlight the implementation of specific technical requirements in OSSE.

Methods: KiRaFe is based on the Open Source Registry System for Rare Diseases (OSSE), a flexible and customizable framework for web-based patient registries [3]. Parameters to be included in the registry were discussed beforehand in expert groups, taking into account the compatibility with (inter-)national registries, and documented in Excel sheets as templates for the creation of data elements and forms in OSSE. In addition, KiRaFe-specific technical requirements not currently covered by OSSE were identified and discussed. Adaptions of general interest were implemented in the OSSE core system, while KiRaFe-specific functions were integrated via a JavaScript-based script for form modifications.

Results: The resulting modular set of >500 parameters includes general and disease-specific contents for eight malformations, allowing future extensions for additional conditions or specialties. Special care was taken in the design to avoid overlaps and double documentation for patients with multiple malformations. The parameters were implemented in OSSE to create the KiRaFe registry, comprising 233 data elements in 18 data entry forms, available in German and English. The registry currently covers three malformations, with further parameters to be added once released by the respective expert groups.

Data protection requirements and KiRaFe’s organizational structure necessitated several technical adjustments to OSSE. This includes the selective display of forms depending on the diagnosis or context, corresponding to the registry’s modular design. For data protection reasons, episodes no longer have to be linked to a specific date and the day of life is automatically calculated where the corresponding date should not be stored in the registry.

Following several test phases and adjustments, the KiRaFe registry went live in November 2021 at ten participating sites, with further hospitals committed to join subject to contract. As of April 2022, 55 patients have provided informed consent for enrolment in the registry.

Discussion & conclusion: This work demonstrates the flexibility of OSSE in meeting specific requirements for the implementation of a modular patient registry. We successfully launched the nationwide KiRaFe registry for congenital malformations which will facilitate systematic research into the incidence, treatment, and clinical course of these conditions. Due to its modular design, KiRaFe has the potential to grow further by including additional malformations, specialists, and centers in the future.

Acknowledgments: We would like to thank the “Dr. Emil Alexander Huebner und Gemahlin-Stiftung” for their financial support of the registry.

The authors declare that they have no competing interests.

The authors declare that a positive ethics committee vote has been obtained.