We'd like your feedback
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
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
Emma
Burkitt Wright
emma.burkitt-wright@manchester.ac.uk
Dr
Emma
Burkitt Wright
emma.burkitt-wright@manchester.ac.uk
Other congenital malformations
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.
We propose to study a group of genetic conditions, called RAS¬MAPK pathway disorders, in which high rates of congenital abnormalities, learning difficulties, short stature and other health and developmental problems occur (including childhood tumours). The incidence of these various problems is not yet fully known in the different conditions. This study seeks to find out how common these different features are across the conditions. Changes in many different genes cause these disorders. The proteins that these genes code for all work together in a biochemical pathway, called the RAS¬MAPK pathway. We will examine what particular problems are associated with particular changes (mutations) in each of the genes. Some patients with these conditions do not currently have a known genetic reason for their condition, and we shall seek to identify new genes for these conditions. To do this, a group of patients will be studied, and blood and, where available, other tissue samples from these patients will be subject to molecular analysis. There is great variety in the severity of problems that people with these conditions have, and why this should be is currently poorly understood. It is possible that other genes will be shown to be important in how many difficulties an individual with one of these disorders may have. Such information arising from the study will potentially be useful to patients, their families and their doctors in the future.
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: Cohort study;
You can take part if:
You may not be able to take part if:
There are no specific exclusion criteria for this study. The suitability of any eligible patient for inclusion in the study will be assessed by the geneticist looking after them. Patients who might become too distressed by participation will not be elgible for inclusion, and any such judgement would be made by the clinician who knows them.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
Emma
Burkitt Wright
emma.burkitt-wright@manchester.ac.uk
Dr
Emma
Burkitt Wright
emma.burkitt-wright@manchester.ac.uk
The study is sponsored by University of Manchester and funded by 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 10486
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
