Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- 500
Summary
- Conditions
- Atherosclerosis
- Cardiomyopathy
- Cardiovascular Capacity
- Li Fraumeni Syndrome
- Parkinson's Disease
- Type
- Observational
- Design
- Observational Model: Case-ControlTime Perspective: Prospective
Participation Requirements
- Age
- Between 1 years and 100 years
- Gender
- Both males and females
Description
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 mecha...
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.
Tracking Information
- NCT #
- NCT01143454
- Collaborators
- Not Provided
- Investigators
- Principal Investigator: Michael N Sack, M.D. National Heart, Lung, and Blood Institute (NHLBI)