Research
Get involved in research
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 is focused on making the community "clinical trials ready".
Family Priorities Survey
CASK Research Foundation has teamed up with the Patient Led Research Hub (PLRH) at the University of Cambridge. Together we aim to explore how the CASK global registry (RARE-X) can support new research that is most important to you.
To help shape this research project, please complete this quick (3-min), anonymous survey and let us know which areas of living with a CASK-related disorder you would like to learn more about. Responses will inform future research and may be included in reports and publications composed by CASK Research.
RARE-X Natural History study
For drug developers and researchers to identify patients eligible for new or repurposed drugs specific to CASK, it is imperative to create a database containing the medical records and other health information of CASK patients all over the world.
RARE-X is an ongoing study that all patients can (and should) participate in. Over 150 patients registered already. Please play your part in helping to find treatments for CASK.
UK CASK database
Researchers at Bristol University need two minutes of your time. Please can all UK families complete this survey — it's anonymous, super easy and speedy. Before you start, please find your genetics letter because you'll need to input the gene variant of your child. Can't find it? Bristol still wants your answers — just skip that question.
Why is this important?
The team at Bristol are already studying CASK and are keen to ensure they continue to study the symptoms and aspects of CASK that our community need the most.
The team, led by Dr Sam Amin (renowned paediatric neurologist), have created and manage a CASK UK patient database. This will enable them to have a detailed understanding of CASK-related disorders. Their long-term goal is to find a drug to help our children, and ensure the NHS and NICE have enough information on the UK population to enable a drug to be licenced.
FaceMatch
FaceMatch aims to help people with a possible genetic condition find a diagnosis by matching their facial features with people who already have a diagnosis.
All people are beautifully unique in their appearance, and some people with genetic conditions share similar facial features. These features can sometimes provide a clue to diagnosis.
