As the flagship project of CASK Gene Foundation, the CASK Registry was launched in 2020, serving to inform families, clinicians, and researchers alike about the general population of CASK gene disorders that have been discovered across the globe.
The pilot project aimed simply to gather data for statistical analysis and informational charts. Due to the success of the project, it was later granted IRB approval as an official natural history study of CASK-Related disorders. The registration form was updated with an informed consent document for research participation, for use if families wanted to contribute their registry information for participate in research opportunities beyond just the statistical charts. By popular request, the CASK Registry was also upgraded with a patient portal system, for those that wanted easy access to view and edit the information they submitted, and the Registry was expanded to include additional medical surveys and opportunities to register for partner studies.
Purpose and limitations of this form
This form is intended to deliver a reponse to an inquiry about the status of a patient's presence in or absence from the CASK Registry, and related research options. It will not add a new case to the Registry. By providing your basic information and that of a person with a CASK diagnosis, we will be able to return to you an indication of whether this person has a file in the CASK Registry, and if so - when they first entered our system, and a recommendation for next steps, based upon your preferences indicated.