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, a Registry Working Group was established, whose coordination is in charge of Prof. Dr. Estela Rubio-Gozalbo.
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.
In 2019 the manuscript on natural history of classic galactosemia (type 1) including data from 509 patients has been published. View manuscript by clicking here.
The summary of this manuscript is being translated to different languages to make it accessible to patients. The Dutch summary of results is currently available (scroll down to see the PDF).
At present, we are working on the natural history of galactokinase deficiency galactosemia (type 2).
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 FoundationSwitzerland: Batzebär foundation of the University Hospital Bern and the Galaktosämie Schweiz patient organization
United Kingdom: British Inherited Metabolic Disease Group (BIMDG)