Patient registries are crucial for the successful development of therapies in rare diseases. The Galactosemia Patient Registry aims to increase the knowledge on the natural history of the disease, to provide a better understanding on the pathogenic mechanisms underlying galactosemia, to develop evidence-based guidelines for diagnosis, treatment and follow-up, and ultimately to serve as platform for clinical and translational research. Within the GalNet an international patient registry was developed and implemented in 2014 under the leadership of Prof. Dr. Estela Rubio-Gozalbo who is also the coordinator. The Registry has been developed by the Clinical Trial Center Maastricht – CTCM (Maastricht, The Netherlands), with the financial support of the European Galactosemia Society and the Maastricht Academic Medical Fund. The coordinating center (Maastricht University Medical Center+ (MUMC+)) has developed the registry, adapted from a Harvard University-based RedCap system developed by Prof. Dr. Gerard T. Berry.

It is a web-based Registry that uses the MACRO software, and is in compliance with Good Clinical Practice (GCP) regulations. It was designed in a way to ensure maximal quality and interoperability throughout data collection. Patient data is coded and password protected, and is based on a consensual Case Report Form (CRF). Data elements were discussed and agreed within all GalNet committees and members, and clearly defined in order to ensure consistency across the participating centers. Patient data is entered only after informed consent from patients (or parents, in case the subject is a minor) and approval of the medical ethical committee of each local institution and in accordance to national laws and regulations regarding research governance. Financial support to enter the data is obtained at the national level.

The Galactosemia Patient Registry represents a unique opportunity to overcome the specific difficulties related with rare diseases, and to improve galactosemic patients care and outcome. Currently many centers around the world are participating in this registry. The registry is still open.

Data governance details:

The GalNet registry has been approved by the local ethics committee of the coordinating center, application number METC 13–4-121.6/ab, and subsequently approved by all participating partners. PIs from contributing centers have submitted the registry proposal to their local institutions for ethical approval according to national laws and regulations. A letter of agreement has been signed by participating centers for the use of data. Following approval, training is provided to the responsible PIs by the coordinating center. This training includes explanation on the content of the electronic case report (eCRFs) and how to enter data. Participants are approached by their treating physicians to participate in the registry and written consent is obtained from all patients or their authorized representatives prior to data entry. Data curation by the coordinating center is performed regularly. Overviews of missing data are provided, and PIs are contacted to complete datasets.

Developed with financial support from:

European Galactosemia Society (EGS)
Maastricht Academic Medical Fund

Data collection and analysis with financial support from:

Ireland: Health Research Board
Netherlands: Dutch Galactosemia Society (GVN), Stofwisselkracht and METAKIDS
Spain: Spanish Galactosemia Foundation

Switzerland: Batzebär foundation of the University Hospital Bern and the Galaktosämie Schweiz patient organization
United Kingdom: British Inherited Metabolic Disease Group (BIMDG)

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