Help for families
CASK Registries
Registries are how rare-disease communities make themselves visible to researchers, clinicians and drug developers. We coordinate three: the RARE-X global registry, the UK clinical registry with the University of Bristol, and the Counting CASK census.
RARE-X — the global registry
The CASK Coalition has partnered with RARE-X to capture de-identified data on CASK patients from around the world.
RARE-X is a platform that gathers data on rare diseases via patient-reported surveys. The data is patient-owned, secure, streamlined and international in scope. RARE-X is part of Global Genes, the global advocacy non-profit for rare diseases. Since RARE-X is a nonprofit, there is no cost to you or the CASK community.
The CASK RARE-X data collection programme represents the only ongoing natural history study on CASK disorders. We have more than 150 patients enrolled. If you haven't already, please register now.
We are gathering important data relating to symptoms and prognosis. This data is mirroring already published data, whilst also adding to the known symptoms and highlighting key areas for future study.
Your data on RARE-X can be used to:
- Identify under-reported symptoms
- Help us understand the spectrum of disorders
- Inform researchers how CASK symptoms change over time
- Enable better data to be used in clinical trials
- Give patients with CASK gene mutations the opportunity to participate in clinical trials
- Reduce the time it takes to study new medicines
- Speed up the time to get treatments to patients
- Enable the use of data as a placebo (instead of actual patients) in a clinical trial
Watch the launch of the CASK gene community registry
The UK clinical registry
The UK clinical registry is being developed in partnership with the University of Bristol and the NHS. Recruitment will be via both our charity and clinicians. The registry is currently awaiting ethical approval.
CASK Registry UK will be the only UK CASK disorder patient registry.
A patient registry is a survey that collects information about people with a specific medical condition held on a secure and confidential database. The CASK Registry UK helps us to:
- Keep track of how many people in the UK have a CASK-related disorder
- Measure the impact of a CASK disorder on those patients over time
- Advocate for new treatments to come to the UK
- Support planning and implementation of UK clinical trials and delivery of treatments once they are approved
To ensure your child is able to take part please register with CASK Research Foundation.
Counting CASK — the global census
Counting CASK enables us to estimate how many people are diagnosed with a CASK-related disorder.
If you are caring for a loved one with a CASK disorder please register. In order to start clinical trials, pharmaceutical companies need to know how large the patient base is in each country. Without this information we won't be able to bring drugs to patients.
Register in your language:
All data is kept on a secure platform and follows GDPR. We may contact you in relation to participating in research, but any contact will be infrequent. You may ask to remove your data at any time — email info@caskresearch.org.