Research
Road map to a cure
Rare diseases do not solve themselves. Developing effective treatments — whether drugs or gene therapies — is a complex, costly endeavour that requires coordination across science, medicine, industry, and the patient community. We exist to bring these moving parts together, orchestrating a global effort with a clear purpose: to accelerate the path to meaningful treatments for individuals affected by CASK-related disorders.
Science sits at the heart of everything we do. By embedding scientific expertise within our organisation we are able to make informed decisions, identify the most promising opportunities, and actively shape the future of therapeutic development.
There is no single solution to a genetic condition like CASK. Different approaches will be needed, and every potential therapy comes with its own risks and uncertainties. That is why we take a balanced, forward-looking approach — supporting progress today while continuously seeking safer, more effective and more accessible treatments for tomorrow.
We are not only focused on what is possible now — we are helping to build what comes next.
Can CASK be cured?
It is unlikely that CASK can be 100% reversed since the brain abnormalities are present at birth. However, we are hopeful that a gene therapy delivered as soon after birth as possible could greatly improve prognosis and lead to a happier, healthier life. Scientific research shows that the CASK gene is needed for brain development in the womb as well as brain maintenance and function. A gene therapy could improve brain function and maintain it in a healthier state.
It is important to note that any gene therapy would only target one organ (specifically the brain in our case) — so any impacts of lack of CASK in other parts of the body would not be improved by gene therapy.
Is it possible to develop targeted treatments for CASK disorders?
Developing a brand-new medicine is an enormously expensive process. Taking a drug from discovery through development and into clinical use can cost tens of millions of dollars, often exceeding $80 million. While this may be achievable for common conditions, it is rarely a realistic option for ultra-rare disorders such as CASK disorders.
That is why CASK Research focuses on treatment approaches that are both scientifically promising and financially achievable for a small patient community. Our strategy is centred on identifying medicines that have already been tested for safety in humans.
Our progress so far includes:
- Initiating the development of a drug-screening platform with the University of Bristol to test approved medicines in fruit fly and human cell models of CASK disorders. This still requires more funding. Donate now.
- Identifying an approved drug and completing initial proof-of-concept studies.
- Identifying a previously shelved drug that has shown encouraging results in preliminary laboratory studies for MICPCH.
"We refuse to spend your donations on research into compounds that have little realistic chance of ever reaching our community. Repurposing existing drugs must be our priority." — Laura Hattersley, Founder of CASK Research
This approach gives us the best opportunity to accelerate the development of treatments while making the most effective use of every donation we receive.
Is it as simple as finding a drug?
Sadly not. To get a drug through clinical trials and licenced for our community we need lots of data on the disease and how it impacts patients. We need a way to measure any improvements (clinical-trial end points) and we need to be able to say why the drug is helping (the biological mechanisms it is affecting). We also need a community of clinicians who understand the disease and are willing to assist in clinical trials.
The CASK Coalition together created a road map that prioritises the neglected aspects of research needed to get us from no treatments to targeted treatments and better care. We use this roadmap to help us decide which research to fund.
Our journey
From understanding to A Better Life
Six connected stages towards better treatments for CASK disorders. Click each stage to expand. The Improved Quality of Life ribbon below runs from stage 3 onwards — quality-of-life improvements are a goal throughout the journey, not just at the end.
🧬 Stage 1 Understanding the disease
Understanding the disease
Build foundational knowledge of CASK disorders.
- Natural history studies
- Patient journey mapping
- Genotype–phenotype studies
- Biological functions of CASK
- In vitro and in vivo models
🔬 Stage 2 Disease biology characterisation
Disease biology characterisation
Understand how CASK mutations cause symptoms.
- Disease mechanisms
- Variant effects
- Brain development pathways
- Cell and animal models
❤️ Stage 3 Improved patient care
Improved patient care
Immediate impact for families.
- Symptom prioritisation
- Self-reported surveys
- Clinician-reported data
- Patient management plans
- Enhanced clinical care
- Greater family support
→ Outcome: Improved quality of life
📊 Stage 4 Clinical trial readiness
Clinical trial readiness
Preparing for future treatments.
- Biomarkers
- Meaningful clinical endpoints
- Physician expertise network
- Trial infrastructure
🎯🧬 Stage 5 Treatments — split pathway
Treatments — split pathway
Symptom-targeted therapies and gene-targeted therapies progress in parallel.
- Symptom-targeted: epilepsy treatments
- Symptom-targeted: cerebellar degeneration therapies
- Symptom-targeted: other high-priority symptoms
- Gene-targeted: CASK activation
- Gene-targeted: CASK gene replacement
✨ Stage 6 A better life
A better life
Combining biological understanding, improved patient care, clinical trial readiness, and innovative therapies to deliver life-changing treatments for people living with CASK disorders.
