The CASK Registry is a remote, internet-accessible, patient, caregiver, and clinician-reported database that is owned and operated by the CASK community.

There are two parts to the CASK Registry. The ROLL CALL portion seeks primarily to count as many CASK cases as possible, to provide high level demographic statistics about this population.

The RESEARCH SUPPORT portion is a place to centralize your loved one’s information in an environment dedicated to helping those with CASK-related disorders, so that we can band together to provide services to our CASK families, help ourselves to understand this condition and its prognosis better, and contribute to developing better treatments and therapies for CASK-related disorders.

This registry is for anyone who is diagnosed with a genetically-confirmed CASK disorder, or chromosomal disorder that impacts CASK. This may include those with known or likely pathogenic mutations, those with CASK mutations of uncertain significance, and those that are known to be unaffected carriers of a CASK mutation. Participants may provide data for themselves, or parents and guardians can register their loved one.

Your experience is a valuable resource that can help other families. This information - when viewed collectively and collaboratively with other compatible participating registry services - can help us all to understand the CASK gene better, as we learn more about the wide variety of ways it can impact different people. It can also validate the experiences we share, and help CASK-related foundations seek funding and donations for services, support, and research to benefit the CASK community.

The insights we can help each other to learn will be a powerful resource. It will help us work together to expedite the CASK-specific observational and statistical studies that will improve the awareness needed to add the CASK gene to more lab panels for earlier and more accurate diagnosis, to improve the way clinicians are able to treat those with CASK-related disorders, and to verify both the necessity for and efficacy of CASK-specific treatments and therapy protocols that could someday be covered by insurances and publicly-funded assistance programs.

If you choose to consent to additional (optional) research opportunities, your registry data can also help biomedical researchers and biopharma companies. Your information can collectively drive the development of more powerful symptom management techniques and tools, answer research questions, provide insights to create outcome measure tools, improve clinical trials to be more efficient and affordable, and lead to treatments or even a cure.

You are not required to consent to all research when you join the CASK Registry. While some families may wish to participate in every registry study, other families may opt only to have their CASK case counted in the global ROLL CALL.

As an organization, we support and contribute to many types of research, and will regularly review and analyze data shared in the CASK Registry, as part of their on-going natural history study. This study provides insights back to the CASK community, so all can learn more about how CASK disorders impact our lives.

As parents, we understand that different families support the CASK cause in different ways, and some may not be comfortable with all types of research, all research teams, or all sources of funding for research. There are opportunities for families to opt in to more extensive research and data sharing opportunities attached to the CASK Registry, but we respect and defend each family’s right to choose which sections and projects they feel comfortable supporting and to refrain from supporting those outside their comfort zone.

Your loved one’s data will be coded with a unique ID code. Personally identifying information is kept confidential and only coded data is shared. A professionally sourced and highly secure data storage system that meets national and international regulatory requirements for conducting clinical trials, including HIPAA, GDPR, PHIPA, and others, is used. Extra steps have also been taken to further protect your privacy. For more details about security measures and standards used, see our full privacy policy.