- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01143454
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
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 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.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Rebecca D Huffstutler, C.R.N.P.
- Phone Number: (301) 594-1281
- Email: rebecca.huffstutler@nih.gov
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
-
Contact:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Phone Number: TTY dial 711 800-411-1222
- Email: ccopr@nih.gov
-
Bethesda, Maryland, United States, 20814
- Completed
- Suburban Hospital
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- INCLUSION CRITERIA:
Eligible subjects may include anyone over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders. Relatives may include genetic carriers and non-carriers.
- 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 history and may review any medical records that are available 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 1 year 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.
- Pregnant women
- Persons who are not fluent in the English language will be excluded from Patient Reported Outcome Questionnaires. Such persons would be unable to properly complete questionnaires that are only valid in the English language.
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
1. Adult index cases and relatives
Enrolled with a known or suspected pathology that may be associated w/cardiovascular dysfunction or risk w/suspected atypical presentation, heritable disorder, or genetic predisposition.
|
|
2. Child index case and child relatives
Children over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders.
|
|
3. Healthy adult volunteers
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Disease Diagnosis
Time Frame: Ongoing
|
This protocol will complement the aims of the Undiagnosed Diseases Program (UDP), which may admit some of its subjects through this protocol, to provide answers to subjects with conditions associated with cardiovascular features that may have long eluded diagnosis and to advance medical knowledge about rare and uncommon human diseases.
|
Ongoing
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Understanding disease pathophysiolgy
Time Frame: Ongoing
|
to assist in the understanding of disease pathophysiology and in the generation of diagnoses in subjects with uncommon presentations of diseases with cardiovascular consequences.
|
Ongoing
|
Potential genetic counseling
Time Frame: Ongoing
|
Determining molecular etiology of diseases encountered on this protocol
|
Ongoing
|
Collaborators and Investigators
Investigators
- Principal Investigator: Michael N Sack, M.D., National Heart, Lung, and Blood Institute (NHLBI)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Heart Diseases
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Arteriosclerosis
- Arterial Occlusive Diseases
- Neoplasms
- Genetic Diseases, Inborn
- Parkinsonian Disorders
- Basal Ganglia Diseases
- Movement Disorders
- Synucleinopathies
- Neurodegenerative Diseases
- Neoplastic Syndromes, Hereditary
- DNA Repair-Deficiency Disorders
- Parkinson Disease
- Cardiomyopathies
- Atherosclerosis
- Li-Fraumeni Syndrome
Other Study ID Numbers
- 100126
- 10-H-0126
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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