CASK gene related disorders

Research into CASK gene disorders

In ultra-rare diseases such as CASK gene mutations, it is often difficult to justify developing a new medication for just a handful of children and especially difficult if the disease is poorly understood. To give CASK gene disorders the best possible chance of having licensed treatments, CASK Research UK is focused on making the community ‘clinical trials ready’.

A large A0 poster with black background and bright pinks describing CASK disorders

Download a .pdf of this conference poster here

Research for patients to be involved in

RARE-X Natural History study

In order for drug developers and researchers to identify patients eligible for either new drugs or repurposed drugs specific to CASK, it will be imperative to create a database containing the medical records and other health information of CASK patients all over the world. Register now for the RARE-X natural history study.

RARE-X is an ongoing study that all patients can (and should) participate in. You can read more here. We have more than eighty patients enrolled so far so, if you haven’t already, please register now. We have over 100 patients registered already. Please play your part in helping to find treatments for CASK.

Patient enrollment

We are gathering important data relating to symptoms and prognosis. This data is, in some aspects, mirroring already published data, whilst also adding to the known symptoms and highlighting key areas for future study.

Brain and NS

Cambridge University Bingo Study

Advert for the BIngo project CASK Research

Are you interested in understanding the strengths and challenges of individuals with a CASK gene difference? Are you interested in exploring why your child might feel, act, learn, or communicate differently? So are researchers leading the BINGO project based at the MRC Cognition and Brain Sciences Unit, University of Cambridge. BINGO stands for Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin.

We need 10-20 participants NOW! Will you be one of them? Please read more here or register to take part here.

GENROC study

Calling UK families with CASK! Bristol University are conducting research into rare genetic conditions including CASK gene disorders to help gather information on them and make it available to doctors [within the NHS] and guide treatments. In particular it will focus on the development of growth charts and other clinical information and how to work best with social media groups to gather information. 

Participation is really easy – after some initial surveys (taking in total approx 20 mins) they will use anonymised information from NHS and education records (with your permission), so very low effort to get involved! 

Register your interest here: 

GENROC eligibility
GENROC eligibility 2

For more on eligibility and more information in general, click here.

The Inchstone Project

Collaborating to Accelerate Outcome Measures for those who are Severely Affected

Most people don’t realise that on too many occasions effective drugs fail to get licenced because the improvements they bring to a patient cannot be measured with the current measuring tools. Progress is measured in milestones rather than inchstones, and small but important changes are dismissed and not allowed as evidence for the effectiveness of a drug. We don’t want this to happen when we finally find a treatment for CASK!


The focus of the inchstone project is on critical outcome domains for individuals with developmental and epileptic encephalopathies (DEEs) who have severe functional and cognitive impairments and whose progress cannot be meaningfully captured with standard clinical outcome assessments. Watch the video to find out more and email to get your access code to be part of this ground-breaking project.

Lab based research

Developing a translational research platform to understand the function of CASK and develop new drugs

This study is led by Professor James Hodge at Bristol University, UK. Professor Hodge has created CASK fly models and is using them to study the cellular mechanisms of CASK, elucidate the actions of the different domains of the CASK gene and identify possible treatment avenues. This study was funded by CASK Research UK.


One avenue of research is a technique called X-reactivation. In brief, this involves activating silenced healthy CASK genes that are present in the brains of females with the disorder. Read more about this revolutionary potential therapy.

At the beginning of 2024 the CASK Coalition successfully reached the funding target for this revolutionary technology. The team at UC Davis are currently working hard to see if this is a viable treatment option. This study is joint funded by CASK Research UK, ACNRF Australia and USA and Association Enfants CASK France.

A drug to prevent cerebellar degeneration

This study, by Professor Mukherjee at Virginia Polytechnic Institute and State University, is funded by the Angelina CASK Neurological Research Foundation, a member of the CASK Coalition. You can read updates on the progress here.

Are you a researcher?

You can read our research strategy, eligibility criteria and more here.

CASK animal and cell models

We are currently creating a database of all available CASK models in order to accelerate research into our rare disease. If you are a researcher who works on CASK models please ensure you have completed this ten question survey.