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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.
Nicholas Morrell
01223 331666
nwm23@cam.ac.uk
Carmen Treacy
1223 763094
cohortcoordination@medschl.cam.ac.uk
Pulmonary Arterial Hypertension Familial Primary Pulmonary Hypertension Hypertension
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.
Pulmonary arterial hypertension (PAH), or high blood pressure in the lungs, is a rare condition that can shorten life. Although the cause of this disease is usually unknown, in about 70% of heritable and 15-20% of idiopathic cases there is a change in a gene (a mutation) that controls how blood vessels grow and function. The gene is called bone morphogenetic protein type receptor 2 (BMPR2). Although mutations in BMPR2 are a risk factor for PAH, not everyone with a mutation gets the disease. Additional genetic and environmental factors are likely to contribute. The investigators suspect that mutations in other genes are responsible for some cases of PAH. In this study the investigators aim to recruit all patients with PAH and some of their relatives and follow them up for several years. The investigators hope to discover new mutations for this disease and to determine what factors lead to poor outcome, and to understand what triggers disease in patients with mutations.
Who can participate? Adults with PAH, their relatives and controls (one off blood sample)
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:
You can take part if:
You may not be able to take part if:
This is in the inclusion criteria above
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Carmen Treacy
1223 763094
cohortcoordination@medschl.cam.ac.uk
Nicholas Morrell
01223 331666
nwm23@cam.ac.uk
The study is sponsored by University of Cambridge and is in collaboration with British Heart Foundation; Medical Research Council.
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
