Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Cardiovascular Disease Discovery Protocol
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
A observational or N/A phase clinical study on Atherosclerosis and Cardiomyopathy, this trial is actively recruiting participants. The trial is conducted by National Heart, Lung, and Blood Institute (NHLBI) and has accumulated 87 data snapshots since 2010. Longitudinal tracking of this trial contributes to a broader understanding of treatment development timelines.
Study Description(click to expand)We propose to characterize the etiology and natural history of rare and uncommon diseases, both known and unknown that present with symptoms and signs associated with the risk of overt or potential cardiovascular dysfunction. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common cardiovascular diseases. In so doing, we will expand our knowledge about these disorders and provide access to subjects of interest for research, teaching, and clinical experience. Individual subjects seen under this protocol may initiate the establishment of specific disease-related protocols involving intensive natural history studies, disease discovery and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Cardiovascular Branch (CB) of the NHLBI, this protocol can provide a possible avenue for admitting subjects from other NIH programs such as the NIH Undiagnosed Diseases Program, the Center for Human Immunology Trans-institute program or other NIH protocols where subjects exhibit cardiovascular features.
We propose to characterize the etiology and natural history of rare and uncommon diseases, both known and unknown that present with symptoms and signs associated with the risk of overt or potential cardiovascular dysfunction. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common cardiovascular diseases. In so doing, we will expand our knowledge about these disorders and provide access to subjects of interest for research, teaching, and clinical experience. Individual subjects seen under this protocol may initiate the establishment of specific disease-related protocols involving intensive natural history studies, disease discovery and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Cardiovascular Branch (CB) of the NHLBI, this protocol can provide a possible avenue for admitting subjects from other NIH programs such as the NIH Undiagnosed Diseases Program, the Center for Human Immunology Trans-institute program or other NIH protocols where subjects exhibit cardiovascular features.
Status Flow
Change History
87 versions recorded-
May 4, 2026 — Present [daily]
Recruiting
-
Apr 28, 2026 — May 4, 2026 [daily]
Recruiting
-
Apr 18, 2026 — Apr 28, 2026 [daily]
Recruiting
-
Mar 2026 — Apr 2026 [monthly]
Recruiting
-
Feb 2026 — Mar 2026 [monthly]
Recruiting
▶ Show 82 earlier versions
-
Jan 2026 — Feb 2026 [monthly]
Recruiting
-
Dec 2025 — Jan 2026 [monthly]
Recruiting
-
Nov 2025 — Dec 2025 [monthly]
Recruiting
-
Oct 2025 — Nov 2025 [monthly]
Recruiting
-
Sep 2025 — Oct 2025 [monthly]
Recruiting
-
Aug 2025 — Sep 2025 [monthly]
Recruiting
-
Jul 2025 — Aug 2025 [monthly]
Recruiting
-
Jun 2025 — Jul 2025 [monthly]
Recruiting
-
May 2025 — Jun 2025 [monthly]
Recruiting
-
Apr 2025 — May 2025 [monthly]
Recruiting
-
Mar 2025 — Apr 2025 [monthly]
Recruiting
-
Feb 2025 — Mar 2025 [monthly]
Recruiting
-
Jan 2025 — Feb 2025 [monthly]
Recruiting
-
Dec 2024 — Jan 2025 [monthly]
Recruiting
-
Nov 2024 — Dec 2024 [monthly]
Recruiting
-
Oct 2024 — Nov 2024 [monthly]
Recruiting
-
Sep 2024 — Oct 2024 [monthly]
Recruiting
-
Aug 2024 — Sep 2024 [monthly]
Recruiting
-
Jul 2024 — Aug 2024 [monthly]
Recruiting
-
Jun 2024 — Jul 2024 [monthly]
Recruiting
-
May 2024 — Jun 2024 [monthly]
Recruiting
-
Apr 2024 — May 2024 [monthly]
Recruiting
-
Mar 2024 — Apr 2024 [monthly]
Recruiting
-
Feb 2024 — Mar 2024 [monthly]
Recruiting
-
Jan 2024 — Feb 2024 [monthly]
Recruiting
-
Dec 2023 — Jan 2024 [monthly]
Recruiting
-
Nov 2023 — Dec 2023 [monthly]
Recruiting
-
Oct 2023 — Nov 2023 [monthly]
Recruiting
-
Sep 2023 — Oct 2023 [monthly]
Recruiting
-
Aug 2023 — Sep 2023 [monthly]
Recruiting
-
Jul 2023 — Aug 2023 [monthly]
Recruiting
-
Jun 2023 — Jul 2023 [monthly]
Recruiting
-
May 2023 — Jun 2023 [monthly]
Recruiting
-
Apr 2023 — May 2023 [monthly]
Recruiting
-
Mar 2023 — Apr 2023 [monthly]
Recruiting
-
Feb 2023 — Mar 2023 [monthly]
Recruiting
-
Jan 2023 — Feb 2023 [monthly]
Recruiting
-
Dec 2022 — Jan 2023 [monthly]
Recruiting
-
Nov 2022 — Dec 2022 [monthly]
Recruiting
-
Sep 2022 — Nov 2022 [monthly]
Recruiting
-
Jun 2022 — Sep 2022 [monthly]
Recruiting
-
May 2022 — Jun 2022 [monthly]
Recruiting
-
Apr 2022 — May 2022 [monthly]
Recruiting
-
Mar 2022 — Apr 2022 [monthly]
Recruiting
-
Feb 2022 — Mar 2022 [monthly]
Recruiting
-
Jan 2022 — Feb 2022 [monthly]
Recruiting
-
Dec 2021 — Jan 2022 [monthly]
Recruiting
-
Nov 2021 — Dec 2021 [monthly]
Recruiting
-
Oct 2021 — Nov 2021 [monthly]
Recruiting
-
Sep 2021 — Oct 2021 [monthly]
Recruiting
-
Jun 2021 — Sep 2021 [monthly]
Recruiting
-
May 2021 — Jun 2021 [monthly]
Recruiting
-
Apr 2021 — May 2021 [monthly]
Recruiting
-
Mar 2021 — Apr 2021 [monthly]
Recruiting
-
Jan 2021 — Mar 2021 [monthly]
Recruiting
-
Dec 2020 — Jan 2021 [monthly]
Recruiting
-
Nov 2020 — Dec 2020 [monthly]
Recruiting
-
Oct 2020 — Nov 2020 [monthly]
Recruiting
-
Jul 2020 — Oct 2020 [monthly]
Recruiting
-
Jun 2020 — Jul 2020 [monthly]
Recruiting
-
May 2020 — Jun 2020 [monthly]
Recruiting
-
Apr 2020 — May 2020 [monthly]
Recruiting
-
Mar 2020 — Apr 2020 [monthly]
Recruiting
-
Feb 2020 — Mar 2020 [monthly]
Recruiting
-
Jan 2020 — Feb 2020 [monthly]
Recruiting
-
Dec 2019 — Jan 2020 [monthly]
Recruiting
-
Nov 2019 — Dec 2019 [monthly]
Recruiting
-
Oct 2019 — Nov 2019 [monthly]
Recruiting
-
Sep 2019 — Oct 2019 [monthly]
Recruiting
-
Aug 2019 — Sep 2019 [monthly]
Recruiting
-
Jul 2019 — Aug 2019 [monthly]
Recruiting
-
May 2019 — Jul 2019 [monthly]
Recruiting
-
Feb 2019 — May 2019 [monthly]
Recruiting
-
Jan 2019 — Feb 2019 [monthly]
Recruiting
-
Nov 2018 — Jan 2019 [monthly]
Recruiting
-
Sep 2018 — Nov 2018 [monthly]
Recruiting
-
Aug 2018 — Sep 2018 [monthly]
Recruiting
-
Jun 2018 — Aug 2018 [monthly]
Recruiting
-
Apr 2018 — Jun 2018 [monthly]
Recruiting
Phase: NA → None
-
Dec 2017 — Apr 2018 [monthly]
Recruiting NA
-
Nov 2017 — Dec 2017 [monthly]
Recruiting NA
-
Jan 2017 — Nov 2017 [monthly]
Recruiting NA
First recorded
Jul 2010
Trial started
Per CT.gov start date — pre-dates our first snapshot
Eligibility Summary
Background: \- Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood vessels and lung function. The testing is tailored to the individual and/or condition being studied. Nonaffected individuals may include relatives of affected individuals and healthy nonrelated volunteers. Objectives: \- To study individuals who have or are at risk for cardiovascular diseases, and in some cases their unaffected relatives and healthy volunteers. Eligibility: \- Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases. Design: * Participants will have some or all of the following tests, as directed by the study researchers: * Photography of the face and full body * Body measurements * Radiography, including chest or limb x-rays * Metabolic stress testing to study heart and muscle function * Echocardiography to study heart function * Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance * Computed tomography (CT) angiogram to obtain images of the heart and lungs * Positron emission tomography (PET) imaging to study possible fat infiltration of the heart * Six-minute walk test to study heart, lung, and muscle function and performance * Vascular ultrasound to study blood vessel walls * Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures. * Follow-up studies may be performed under separate research protocols.
Contact Information
- National Heart, Lung, and Blood Institute (NHLBI)
For direct contact, visit the study record on ClinicalTrials.gov .