Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
| Status: | Recruiting |
|---|---|
| Conditions: | Parkinsons Disease, Peripheral Vascular Disease, Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology |
| Healthy: | No |
| Age Range: | 2 - 100 |
| Updated: | 1/16/2019 |
| Start Date: | July 21, 2010 |
| Contact: | OPR Office of Patient Recruitment |
| Email: | prpl@cc.nih.gov |
| Phone: | (800) 411-1222 |
Cardiovascular Disease Discovery Protocol
Background:
- Researchers are interested in studying individuals who have known or suspected metabolic or
genetic diseases that put them at a high risk for heart diseases or diseases of their blood
vessels. To improve the results of the study, both affected and nonaffected individuals will
be asked to provide blood and other samples and will undergo tests to evaluate heart and lung
function. Nonaffected individuals will include relatives of affected individuals and healthy
nonrelated volunteers.
Objectives:
- To study individuals who have or are at risk for cardiovascular diseases, as well as their
unaffected relatives and healthy volunteers.
Eligibility:
- Individuals between 2 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.
- Researchers are interested in studying individuals who have known or suspected metabolic or
genetic diseases that put them at a high risk for heart diseases or diseases of their blood
vessels. To improve the results of the study, both affected and nonaffected individuals will
be asked to provide blood and other samples and will undergo tests to evaluate heart and lung
function. Nonaffected individuals will include relatives of affected individuals and healthy
nonrelated volunteers.
Objectives:
- To study individuals who have or are at risk for cardiovascular diseases, as well as their
unaffected relatives and healthy volunteers.
Eligibility:
- Individuals between 2 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.
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
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
Center for Molecular Medicine (CMM) and the Cardiovascular and Pulmonary Branch (CPB) 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.
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
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
Center for Molecular Medicine (CMM) and the Cardiovascular and Pulmonary Branch (CPB) 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.
- INCLUSION CRITERIA:
Eligible subjects may include anyone over 2 years of age who is affected with
diseases/disorders (index cases), or who is a relative of a person who is affected with
diseases/disorders.
- Pregnant women are eligible to participate in this study if they have been referred
with a known or suspected pathology, if they are a relative of an index case with a
known or suspected pathology, or if they are healthy volunteers (for blood, urine,
saliva, or buccal swab only).
- Healthy adult volunteers must be 18 years of age or older, and must agree to have
blood or tissue samples studied, and potentially stored for future research.
- Index case subjects enrolled in this protocol will have been referred with a known or
suspected pathology that may be associated with cardiovascular dysfunction or risk
with a suspected atypical presentation, heritable disorder, or genetic predisposition.
The investigator with expertise in the presentation of the subject, along with
consulting specialists, will review the medical records of prospective subjects and
offer admission based upon the potential to help the individual, to learn from the
subject, or to initiate clinical or basic research suggested by the subject s workup.
EXCLUSION CRITERIA:
- Persons of less than 2 years of age or greater than 100 years of age
- Healthy volunteers unable to give informed consent or who decline to have blood and/or
tissue studies, or who do not consent to have samples stored for future research may
be excluded from this study.
- Healthy volunteers who are pregnant or nursing will be excluded from all procedures
with the exception of blood, urine, saliva, and/or buccal swab collection.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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