For Researchers
The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal of improving the understanding of chromosome 17q12 deletion and duplication syndromes and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:
- Socio-demographics
- Medical history and diagnostics
- Treatment and syndrome progression
- Management of care
- Quality of life
- Clinical trial participation
We are interested in sharing our data with you! If you would like access to the 17q12 Patient Registry data for a research project, please contact our registry administrator at info@chromo17q12.org for more information. Access to the 17q12 Patient Registry data is contingent upon project approval by the 17q12 Patient Registry Advisory Board.