CASK Data Collection Programme

CASK Data Collection Programme with RARE-X logo

The CASK community has partnered with non-profit RARE-X to build a CASK gene registry, or Data Collection Program, for CASK families. When you participate in the CASK Data Collection Program, you’ll help accelerate research and the development of new drugs, devices, and other therapies.


CASK gene registry

The Data Collection Program will…

· 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

The CASK gene registry (DCP) is patient-owned, secure, streamlined and international in scope. It is now part of Global Genes, the global advocacy non-profit for rare diseases.

The data below, from June 2023, highlights how valuable this data is for families and clinicians. For example, 37% of patients have displayed a loss of a skill or skills. This is a previously undocumented issue.

Overview of CASK issues

Since RARE-X is a nonprofit, there is no cost to you or the CASK community

Join the 80+ patients/caregivers already registered and play your part in changing children’s lives.

Patient enrollment

Watch the launch of the CASK gene community registry (DCP)

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