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How you can help Research?

ACNRF have partnered with RARE-X to drive a Data Collection Program for CASK and related conditions. The RARE-X platform enables the gathering, structuring and sharing of critical patient data at scale. This patient data will help accelerate research, drive disease understanding and enable the development of new diagnostic tools and future treatments and cures.

ACNRF are building the CASK Data Collection Program to:
  • Inform researchers how CASK Gene Mutations impact patients and change over time 
  • Enable better data to use in drug development and clinical trials 
  • Give patients the opportunity to participate in clinical trials 
  • Reduce the time it takes to study new medicines 
  • Accelerate the time to get treatments to patients 

The CASK Data Collection Program is patient-owned and enabled by RARE-X technology. All data governance, consent support, and data security are delivered by RARE-X. Privacy is something RARE-X takes seriously and patient names are never revealed. 

Since RARE-X is a nonprofit, there is no cost to you. RARE-X’s mission is to serve patients, and drive research towards therapeutic development. 

Please do not wait register now: https://cask.rare-x.org

“In some ways, that CASK-linked pathology is degenerative in nature provides a positive outlook. Because microcephaly in CASK-linked pathology progresses postnatally, there may be a temporal window when therapeutic intervention might prevent or slow further brain cell loss. Regression, even in adolescence, has also been observed in some cases of MICPCH [119], again offering the tantalizing possibility that a therapeutic approach might prevent such decline under conditions when degeneration is known to progressThe potential benefits of intervention might extend even further given that non-cell-autonomous toxicity could also affect functioning of the remaining neurons; reduction of such toxicity, especially when coupled with high-intensity rehabilitative measures [120], might offer real hope for a positive impact on functional outcomes.”   

https://www.mdpi.com/2073-4409/11/7/1131/htm