Who is it for? Children between the ages of 3 to 17 years of age with a diagnosis of full mutation Fragile X Syndrome and who experience behavioural symptoms such as social anxiety/avoidance, irritability, and social unresponsiveness.
Why? Children and adolescents with Fragile X Syndrome often experience behavioural symptoms such as anxiety (particularly social anxiety/avoidance), irritability and tantrums which can be challenging, not only for the patients, but also their families.
The purpose of this study is to assess the effectiveness in the treatment of behavioural symptoms of FXS and the safety of investigational cannabidiol (CBD) administered as a transdermal gel (ZYN002) in children and adolescents with Fragile X syndrome (FXS).
To find out more: please contact Research Nurse Jackie Philps
GenOMICC – Genetics of Mortality in Critical Care
Who is it for? Children with severe illness who are admitted to intensive care (ICU) with conditions including:
- COVID-19 (coronavirus)
- Influenza (flu)Respiratory syncytial virus (RSV) (a type of respiratory virus)
- Pancreatitis (inflammation of the pancreas)
- Pneumonia
- Burns
- Cellulitis (infection in the deeper layers of skin)
- and other emerging infections
Why? Our genes (or DNA) determine how vulnerable we are to critical illness. If we could find the genes that cause some people to be more vulnerable, we may be able to develop better treatments for patients in the future. To do this we need a single DNA sample from lots of critically ill patients with a range of selected conditions.
To find out more: contact your child’s Intensive Care consultant, or Research Nurse Rekha Patel
EXE-T1D
Who is it for? Those who were diagnosed with Type 1 diabetes (T1D) before they were aged 2 years old.
Why? T1D results from destruction of insulin producing beta cells by the body’s own immune system (autoimmunity). We do not fully understand what causes this type of diabetes and why there is variation in age of onset and severity between people who develop the condition.
The aim of this work is to study people who develop T1D extremely young. We think that, for the condition to have developed that early, they must have a very unusual or extreme form of autoimmunity. Studying the immune system of people with very early-onset diabetes might help us to learn a lot about the condition.
To find out more: Contact your Diabetes Consultant, or Project Coordinator Sarah Lockwood-Lee
Or take a look at the EXE-T1D website
Splicing and Disease
Who is it for? Children and adults with a condition that is believed to have a genetic component that may affect gene splicing.
You/ your child may not have had any gene testing so far, or else you/ your child may have had gene testing already, which has either produced negative or unclear results, or results that your clinician feels is the cause of your/ your child’s signs or symptoms but the underlying reasons why this causes signs and symptoms remains unclear.
Why? The aim of this study is to identify new gene faults and to understand which gene faults found during gene sequencing are disease causing. This will be done by looking to see if a gene fault affects splicing of the gene or of other genes.
Finding which do will help make genetic testing possible for the disorder. This knowledge may eventually help in the management and treatment of these or other illnesses. Our research can also help understand how these genes normally work in the human body and brain.
To find out more: contact Clinical Genetics Consultant Prof Julian Barwell
There may be other genetics studies, which we haven’t listed here.
Please ask your Doctor about research that may be suitable for you or your child.
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