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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Philippa
Mills
p.mills@ucl.ac.uk
Dr
Philippa
Mills
p.mills@ucl.ac.uk
Dr
Philippa
Mills
p.mills@ucl.ac.uk
Metabolic disorders
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
The process that the body uses to convert food that we eat into the body’s requirements is called metabolism. This process is controlled by genes. When these genes are faulty (because of a mutation which leads to the production of abnormal proteins thereby preventing normal metabolism), disorders of metabolism occur. Collectively these are known as Inherited Metabolic Diseases (IMDs). IMDs comprise a wide spectrum of disorders and may cause serious symptoms and death. Although individually rare, they are collectively numerous. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
In some disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function.
In others it may be due to the effect of a reduced ability to synthesize or transport essential compounds.
For clinicians IMDs are often difficult to recognise as the clinical features can be variable. Whilst numerous IMDs have been identified and the number of recognised IMDs are still increasing there are many children who have yet to receive a diagnosis. Approximately a third of all IMDs have some form of neurological involvement. It is therefore imperative that these are detected and diagnosed as early as possible so as to limit any irreversible damage that may occur.
Many IMDs are eminently treatable.
We would like to investigate the disorders in children suspected to have an IMD using a range of new generation genetic and biochemical techniques. We hope that by using these techniques we will be able to pinpoint the gene that is defective in these children. This will help us to understand what is making them ill and therefore hopefully provide better life-changing therapies for them.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Clinical Laboratory Study;
You can take part if:
You may not be able to take part if:
• Patients unwilling to consent. • Parents/Guardians unwilling to consent. • Personal Consultee (in the case where patients > 16 years o age assessed unable to consent) advises against inclusion of patient in the study.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
Philippa
Mills
p.mills@ucl.ac.uk
Dr
Philippa
Mills
p.mills@ucl.ac.uk
Dr
Philippa
Mills
p.mills@ucl.ac.uk
The study is sponsored by GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST and funded by GREAT ORMOND STREET HOSPITAL CHILDREN'S CHARITY; University College London; Wellcome Trust; .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 14311
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
