National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension

Study Purpose

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)

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	Yes
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational [Patient Registry]
Eligible Ages	N/A and Over
Gender	All

More Inclusion & Exclusion Criteria

Inclusion Criteria:

Inclusion Criteria-Patient.

- Participant is willing and able to give informed consent for participation in the study.

- Male or Female, any age.

- Diagnosed with idiopathic, anorexigen-induced,heritable PAH, PVOD/PCH.

Inclusion Criteria-Relative.

- Participant is willing and able to give informed consent for participation in the study.

- Male or Female, any age.

- Has a family member diagnosed with idiopathic, anorexigen-induced, PVOD/PCH or heritable PAH.

Exclusion Criteria-Patient. The participant may not enter the study if ANY of the following apply:

- Patient is unable to give informed consent.

- Not suffering from idiopathic, anorexigen-induced, PVOD/PCH or heritable PAH.

Exclusion Criteria-Relative. The participant may not enter the study if ANY of the following apply: • Patient is unable to give informed consent. Inclusion criteria-Controls.

- Participant is willing and able to give informed consent for participation in the study.

- Self-reported to be healthy.

- Age range up to 75 years

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT01907295
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	University of Cambridge
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	Nicholas Morrell
Principal Investigator Affiliation	University of Cambridge
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	United Kingdom
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Pulmonary Arterial Hypertension
Study Website:	View Trial Website

Additional Details

What does the study involve? PAH patients will be seen at their local centre by their service team but they will have additional bloods taken. Relatives of PAH patients will be seen every year at their nearest PAH centre. Tests will include:

- Epidemiology Questionnaire to assess factors affecting health.

- An echocardiogram (ECHO) to assess the size, shape, pumping action and the extent of any damage to the heart.

- Lung function tests which include blowing measurements to assess gas volumes within the lungs as well as assessment of how the lungs exchange gases.

- Optional right heart catheterisation (RHC) to determine how much blood your heart is pumping while you are resting and on exercise.

Optional Cardiac Magnetic Resonance tests. To measure heart function. ( to be done only once)

- 6 minute walk test.

To measure exercise capacity.

- Cardiopulmonary exercise test.

A bicycle exercise test, which will indicate how much blood your heart pumps while resting and with different levels of exercise.

- Electrocardiogram (ECG), a test that measures the electrical activity of the heart.

- Blood tests.

Controls:Blood sample and medical data collected once

Arms & Interventions

Arms

: Patients

Patients diagnosed with idiopathic, anorexigen-induced, heritable PAH and PVOD/PCH

: Relatives and controls

Relative has a family member diagnosed with idiopathic, anorexigen-induced, heritable PAH and PVOD/PCH Self declared healthy individuals

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.