National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension
NAIAD
1 other identifier
observational
3,600
1 country
8
Brief Summary
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)
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2014
Longer than P75 for all trials
8 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 8, 2013
CompletedFirst Posted
Study publicly available on registry
July 24, 2013
CompletedStudy Start
First participant enrolled
February 1, 2014
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2022
CompletedMay 20, 2022
May 1, 2022
8.8 years
July 8, 2013
May 19, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
To recruit a national cohort (1000 subjects) of heritable, idiopathic PAH and PVOD/PCH cases.
The purpose of this study is to set up a national cohort of heritable, idiopathic PAH cases, PVOD/PCH and their relatives, to study the genetic and environmental contributions to disease. Setting up of this cohort of patients and relatives will provide the best resource for understanding what causes or triggers the disease, how to predict risk of death and response to therapy in individual patients, and to provide new ways of preventing and treating pulmonary arterial hypertension. The study will enable a better understanding for the first time the natural history of PAH, whether inherited or not. National outcomes to be measured will include survival, progression of the disease, changes in 6 minute walk distance, admissions to hospital for PAH and cause of death. Incidence of new cases of PAH will be measured in relatives as well.
8 years
Secondary Outcomes (1)
To recruit PAH patients (1000) and family members to a Biorepository for serum/plasma and urine to identify biomarkers of disease onset, progression and response to treatment.
8 years
Other Outcomes (2)
longitudinal clinical evaluation and sampling of HPAH family members
8 years
Elucidation of the underlying genetic architecture of idiopathic and heritable PAH
8 years
Study Arms (2)
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
Eligibility Criteria
Patients diagnosed with idiopathic, anorexigen-induced, heritable PAH or PVOD. Relative who has a family member diagnosed with idiopathic, anorexigen-induced, heritable PAH or PVOD/PCH
You may qualify if:
- Participant is willing and able to give informed consent for participation in the study.
- Male or Female, any age
- 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
You may not qualify if:
- 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
- The participant may not enter the study if ANY of the following apply:
- Patient is unable to give informed consent.
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University of Cambridgelead
- British Heart Foundationcollaborator
- Medical Research Councilcollaborator
Study Sites (8)
Royal United Hospitals Bath
Bath, BA1 3NG, United Kingdom
Royal Papworth Hospital NHS Trust
Cambridge, United Kingdom
Golden Jubilee National Hospital
Glasgow, United Kingdom
Imperial Hospital
London, United Kingdom
Royal Brompton Hospital
London, United Kingdom
Royal Free Hospital
London, United Kingdom
Freeman Hospital
Newcastle, United Kingdom
Sheffield Hospital
Sheffield, United Kingdom
Related Links
Biospecimen
All subjects will have a sample of blood taken for next generation genetic sequencing (up to their entire genome). Samples will be sequenced to identify novel genetic mutations associated with PAH. This blood sample will be taken once during the study
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Nicholas Morrell
University of Cambridge
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 3 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- BHF Professor of Cardiopulmonary Medicine
Study Record Dates
First Submitted
July 8, 2013
First Posted
July 24, 2013
Study Start
February 1, 2014
Primary Completion
December 1, 2022
Study Completion
December 1, 2022
Last Updated
May 20, 2022
Record last verified: 2022-05
Data Sharing
- IPD Sharing
- Will not share
Consent for sharing of non identifiable study data for regulatory authorities, third parties including commercial companies outside the UK and NHS trusts where it is relevant to taking part in this research.