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".
Please don't contact researchers directly about your child taking part in a study — contact CASK Research first unless otherwise specified.
Research studies follow strict, ethically approved procedures for recruiting and protecting participants. Sharing your child's name, diagnosis or other details directly with a researcher can unintentionally disclose identifiable information outside those approved channels — and in CASK's community, where numbers are small, children can be identifiable from very little information.
It can mean your child has to be excluded from a study, require new ethical approval, or in serious cases put a study's approval at risk. Contacting a researcher privately does not improve your child's chances — it can have the opposite effect.
The safest route is always through CASK Research: we'll approach the research team through the correct channels and make sure your family is considered fairly, according to the study's approved criteria. We understand families want to pursue every opportunity — this process exists to protect your child, your privacy, and the research itself.
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.
The BEOND study
BEOND is an international survey study being run by the Cerebra Network. The survey will look at behaviour, wellbeing, emotion, physical and mental health in children and adults with CASK gene disorders.
This ambitious survey will be repeated several times over the next 20 years. Our hope is that many families will choose to take part at multiple points so that we can see how responses change over time and get a much better insight into how individuals develop.
What does taking part involve?
You will be asked to complete a survey, either online or via a posted paper copy. The survey includes 12 questionnaires which will take about 60 minutes to complete in total – this can be done in one sitting or multiple sittings. You will be asked a variety of questions about behaviour, wellbeing, emotion, cognition, health, and access to support.
What does BEOND hope to achieve in the long run?
Our hope is that in collecting data at different points in individuals' lives, we will see how individuals with CASK gene disorders develop over time. The data we collect will also improve our understanding of strengths and difficulties experienced by individuals with CASK gene disorders.
New insights from the study will be shared with the community and published in academic papers. We hope that information gathered by this study may be able to offer better ideas for support provision in the future.
What do I get for taking part?
Each family that completes the survey is eligible to receive both:
- A £20/$25 Amazon voucher
- An individualised feedback report that summarises and explains their survey responses.
Where can I learn more about BEOND?
You can find more information about BEOND at the Cerebra Network website. Follow this link or email Dr Rory O'Sullivan at r.osullivan@bham.ac.uk.
How can I take part in BEOND?
You can take part in the BEOND study by completing the form.
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.
