The CASK Registry is an IRB approved natural history study of CASK gene disorders, resulting in an 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 form seeks primarily to count as many CASK cases as possible, to provide high level demographic statistics about this population.

    This form helps us to validate new CASK cases, and confirm their eligibility for Foundation resources, services, and scholarships.

    If you are new to us, or if this is the limit of any research participation that interests you, this form can be found below.

  • The CASK Gene Matrix patient portal 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 patient portal allows you to learn about and opt in to or out of multiple research studies.

    This core aspect of our research participation is powered by Across Matrix. There are currently 4+ active studies hosted in this portal at this time. To request account access, fill out a new ROLL CALL form, and check the box for the CASK Gene Matrix Patient portal.

Behind the Registry

Meet Dr. Konark Mukherjee

ROLL CALL FORM

MORE ABOUT THE REGISTRY

  • 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 our 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, unless you give further, specific consent to share more. Professionally sourced and highly secure data storage systems that meet national and international regulatory requirements for conducting clinical trials, including HIPAA, GDPR, PHIPA, and others, are 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.

STRONGER TOGETHER - CASK REGISTRY DATA PARTNERS

Data Collection Partners

  • The Clinical Research ID service provides patients and families with a unique ID that empowers them to share and link their research data across studies, without sharing their personally identifiable information.

  • Across Matrix powers our interactive data collection platform, where patients, parents, and clinicians can respond to surveys, track symptoms that are important to them, upload medical files, or participate in research studies, including the CASK Gene Biorepository. To request access to this service, submit a ROLL CALL registration form with the box checked for the CASK Gene Matrix patient portal.

  • Citizen provides a service of gathering medical records on behalf of those who opt in to this service, and transcribes significant keywords from those records to add valuable insights to the CASK Registry, and to their other research partners.

Data Sharing Partners

We aim to make it as easy as possible for families to contribute to many data registries, with as few steps as possible.

  • COMBINEDBrain is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurological disorders by pooling efforts, studies, and data. Parents using the CASK Gene Matrix parent portal have the option of sharing their health data with their research team, so that CASK can be quickly studied alongside 80+ other rare neurological disorders.

STRONGER TOGETHER - CASK REGISTRY REACH AND GROWTH

We are grateful to all the families who have contributed to the CASK Registry from across the world.

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