The FGFR Syndrome Research Registry collects disease-specific natural history data about individuals with FGFR Syndromes, with the goal of improving the understanding of FGFR Syndromes and informing treatment development. One of our projects includes finding a correlation between phenotypes and genotypes and to ensure that our patients receive genetic testing. Registry questionnaires were built from common data element standards and cover the following topics:
- Socio-demographics
- Medical Symptoms
- Genetic diagnostics
- Treatment
- Disease progression
- Management of care
- Quality of life
We are interested in sharing our data with you! If you would like access to the FGFR Syndromes Research Registry data for a research project, please contact our registry administrator at registry@bornahero.org for more information. Access to FGFR Syndromes Research Registry data is contingent upon project approval by the Registry Advisory Board.