Information for Researchers

“Registries for Rare Diseases: Involve the Patient” Originally published on Medscape Rare Diseases as part of the NORD and Medscape Editorial Collaboration.


The Galactosemia Patient Registry collects Galactosemia specific natural history data about individuals with the disorder, with the goal of improving the better understanding the condition and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

If you would like access to the Galactosemia Patient Registry data for a research project, please contact our registry administrator at Access to the Galactosemia Registry data is contingent upon project approval by the Galactosemia Foundation board of directors.

If you want to learn more about the Galactosemia Foundation Research Grant Program, please click here: GF Research Program.