Identification of Heritable CTEPH

NCT03579862 | Unknown

• 1 other identifier: 1024723
• Study Type: observational
• Target: 260
• Locations: 1 country
• Sites: 1

Brief Summary

Some patients who have blood clots come down with a life-threatening condition known as Chronic Thromboembolic Pulmonary Hypertension (CTEPH), which is high blood pressure only in the arteries of the lungs. This study seeks to understand more about the genetics causes of CTEPH by obtaining blood samples and examining family histories.

Conditions

Chronic Thromboembolic Pulmonary Hypertension

Outcome Measures

Primary Outcomes (1)

• Rates of family history of VTE in relatives of CTEPH patients compared to PE and PAH patients in Intermountain populations

  through study completion, approximately 18 months

Secondary Outcomes (5)

• Characteristics of familial and, apparently, sporadic CTEPH in Intermountain populations

  through study completion, approximately 18 months

• Estimates of prevalence of familial CTEPH in Intermountain populations

  through study completion, approximately 18 months

• Heritability and penetrance patterns of familial CTEPH

  through study completion, approximately 18 months

• Discovery and validation of genetic polymorphisms present in familial CTEPH patients

  through study completion, approximately 18 months

• Identification of gene pathways that may be relevant to the development of CTEPH after actue PE

  through study completion, approximately 18 months

Study Arms (3)

Chronic Thromboembolic Pulmonary Hypertension (CTEPH)

Other: Blood Draw

Pulmonary Embolism (PE)

Other: Blood Draw

Pulmonary Arterial Hypertension (PAH)

Other: Blood Draw

Interventions

Blood Draw OTHER

Chronic Thromboembolic Pulmonary Hypertension (CTEPH); Pulmonary Arterial Hypertension (PAH); Pulmonary Embolism (PE)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with CTEPH will be recruited and enrolled at Intermountain Healthcare, also from outside of Intermountain Healthcare, for example at the University of Utah (following IRB approval there) and at national conferences.

You may qualify if:

• CTEPH cohort:
• Confirmed CTEPH based on having undergone PEA surgery.
• Strongly suspected CTEPH based on right heart catheterization data showing mPAP\>26 and PCWP\<15, and imaging demonstrating chronic thromboembolic disease (either ventilation/perfusion scan, CT pulmonary angiography, or conventional pulmonary angiography).
• PE cohort:
• PE diagnosed by CT pulmonary angiography or ventilation/perfusion scan within the preceding 24 months.
• No evidence of PH at the time of enrollment (based on absence of dyspnea, exertional chest pain, or exertional presyncope on history, lack of physical exam findings of PH or right heart failure, and lack of signs of PH on objective data including echocardiography and/or right heart catheterization).
• No evidence of chronic thromboembolic disease at the time of enrollment (based on chronic appearing thrombus on CT pulmonary angiography or conventional pulmonary angiography, or based on prior high probability ventilation/perfusion scan showing a similar pattern of perfusion defects).
• PAH cohort:
• Diagnosis of group 1 PAH.
• Prior normal or low probability ventilation/perfusion scan.
• No reported history of prior VTE events.
• If available, all prior evaluations for VTE (including CT pulmonary angiography and Doppler ultrasound exams) must also be negative.

You may not qualify if:

• Under the age of 18

Sponsors & Collaborators

• Intermountain Health Care, Inc.: lead

Study Sites (1)

Intermountain Medical Center

Murray, Utah, 84107, United States

RECRUITING

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Mark Dodson, MD

  Intermountain Health Care, Inc.

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Valerie T Aston, MBA

CONTACT

801-507-4606; valerie.aston@imail.org

David P Tomer, MS

CONTACT

801-507-4694; david.tomer@imail.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2018
• First Posted: July 9, 2018
• Study Start: December 25, 2013
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: October 18, 2022

Record last verified: 2022-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)