Participant information

Participant information

Overall aim of this study

The aim of this study is to set up a UK cohort of patients with idiopathic and heritable pulmonary arterial hypertension (PAH) for research into the causes and potential treatments of this condition.

Background to the study

Pulmonary arterial hypertension, 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 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. In addition, we suspect that mutations in other genes are responsible for some cases of PAH. We 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.

Objectives of the study

1) To recruit all consenting patients with idiopathic and heritable PAH in the UK to a longitudinal study involving the collection of clinical data, blood samples over a period of several years.

2) To determine the genetic causes of PAH in these subjects.

3) To recruit relatives of patients with PAH to annual follow up with clinical testing and blood sampling.

4)  To generate a bank of progenitor cells and stem cells from PAH patients with mutations as a resource to study mechanisms of disease and the effects of potential new treatments.

5) To recruit healthy volunteers to donate a one-off blood sample as a resource for research studies.

Recruitment

Patients with idiopathic or heritable PAH will be approached at one of the nine PH centres in the UK. You will either be sent a patient information sheet or provided with one when you attend the hospital. The study is observational and you will not usually be required to make special visits to your local PH centre. If you agree to participate you will be asked if we can take additional blood tests at each routine visit to the hospital clinic. These will be taken at the same time as your routine clinical blood tests. In addition some patients may be asked to contact their relatives to invite them to join the study. The relatives will be seen at each centre annually for blood tests and some other clinical tests, including an echocardiogram.

Do I have to take part?

No. Your participation in this study is entirely voluntary and you are under no pressure to take part. It is up to you whether or not you decide to take part in this study. If you decide to take part you are still free to withdraw at any time and without giving a reason. A decision to withdraw at any time, or a decision not to take part, will not affect the standard of care you receive.

Participants aged under 16

Parents/guardians with children aged birth-15years and diagnosed with  PAH will be approached at Great Ormond Street Hospital (GOSH) for Children. The study is observational and no special visits will be required

Parents/guardians will be sent a parent/guardian information sheet or be provided with one when attending the hospital. The study is observational and no special visits will be required.

If you agree for your child to participate you will be asked if we can take additional blood tests at each routine visit to the hospital clinic. In addition parents and siblings will be invited to join the study. Parents/Guardians will be given the relevant study information and age appropriate information will be provided for siblings.

Adult relatives (those over the age of 16) will be seen at their local PH centre annually for blood tests and some other clinical tests, including an echocardiogram. There will be an option to give bloods at GOSH either as a one off or longitudinally for adult relatives.   Relatives aged under 16 will be seen at GOSH .

Healthy volunteers aged <16

We are seeking healthy volunteers aged under 16 to help us with our research.  This is a one off visit at Great Ormond Street Hospital where we would like volunteers to donate a small amount of blood.

Remote follow-up of patients

Patients may be followed up remotely by telephone if they are unable to attend clinic. This will involve a short telephone questionnaire to discuss changes in their symptoms and medication.

Thank you for taking the time to visit our website. Please do not hesitate to contact us if you have any questions.

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Patient Update

Pulmonary Hypertension Association UK (PHA) website www.phassociation.uk.com

Participant Website Information V4 11/01/2021         IRAS Project ID: 123349              


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