Metabolic DiseaseNCT01143454
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
An observational study of Metabolic Disease and Obesity, run by National Heart, Lung, and Blood Institute (NHLBI) at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome
- What is being tested?
- NSR IDE-MRI: Research pulse sequences
- Type of treatment
- Medical device
- How many people
- 5,000 participants
- Where
- 3 sitesUnited States
- Study dates
- 21 Jul 2010to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 1. Adult index cases and relatives 2. Child index case and child relatives 3. Healthy adult volunteers 4. Illiterate, Blind, or Non-English-Speaking Subjects
Who may be able to join
- 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 cases 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.
Who cannot join
- 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.
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites, 2 recruiting
- Completed
Suburban Hospital
Bethesda, Maryland, 20814
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
- Recruiting
Hope Center
Washington D.C., District of Columbia, 20006
About this study
Official title: Cardiovascular Disease Discovery Protocol
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.
Read more
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.
Read the detailed 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 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.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy, Atherosclerosis, Inflammatory Disease
- Being tested
- NSR IDE-MRI: Research pulse sequences
- Keywords
- Cardiac Disease, iPS Cells, Cardiac Risk Factors, Cardiac Disease Discovery, Natural History, Heart Disease, Heart Disease Risk
- Medical subject headings
- Metabolic Diseases, Obesity, Li-Fraumeni Syndrome, Cardiomyopathies, Atherosclerosis, Heart Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NSR IDE-MRI: Research pulse sequencesDevice
NSR IDE-MRI: Research pulse sequences, Device Manufacturer NIH. Research pulse sequences are customized pulse sequences and analysis software developed by NIH scientists.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Device: NSR IDE-MRI: Research pulse sequences | |
| 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. Receives: Device: NSR IDE-MRI: Research pulse sequences | |
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Disease Diagnosis
This protocol will allow condition-specific evaluation and sample collection to subjects with conditions associated with cardiovascular features and risk that may have long eluded diagnosis and to advance medical knowledge about rare and uncommon human diseases.
Measured: Ongoing
Secondary outcomes (2)
Potential genetic counseling
Determining molecular etiology of diseases encountered on this protocol
Measured: Ongoing
Understanding disease pathophysiolgy
Assist in the understanding of disease pathophysiology and in the generation of diagnoses in subjects with uncommon presentations of diseases with cardiovascular consequences.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2010 (estimated)
- Study start21 Jul 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Metabolic DiseaseStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Paul M Hwang, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01143454
- Sponsor's protocol ID
- 100126
- Other IDs
- 10-H-0126
- Status last verified
- 29 Jun 2026
- First submitted
- 11 Jun 2010
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Han K, Klein RJ, Recupero TC, Russo AC, Sharma R, Gupta AK, Hassanzadeh S, Huffstutler RD, Dagur PK, Fisk B, Redekar NR, Sack MN. NAD+ augmentation by nicotinamide riboside engages SLIT2/ROBO1 signaling to attenuate Th17 inflammation in psoriasis. JCI Insight. 2026 Apr 28;11(12):e203826. doi: 10.1172/jci.insight.203826. eCollection 2026 Jun 22.
PubMed 42048163Han K, Singh K, Meadows AM, Sharma R, Hassanzadeh S, Wu J, Goss-Holmes H, Huffstutler RD, Teague HL, Mehta NN, Griffin JL, Tian R, Traba J, Sack MN. Boosting NAD preferentially blunts Th17 inflammation via arginine biosynthesis and redox control in healthy and psoriasis subjects. Cell Rep Med. 2023 Sep 19;4(9):101157. doi: 10.1016/j.xcrm.2023.101157. Epub 2023 Aug 15.
PubMed 37586364Han K, Singh K, Rodman MJ, Hassanzadeh S, Wu K, Nguyen A, Huffstutler RD, Seifuddin F, Dagur PK, Saxena A, McCoy JP, Chen J, Biancotto A, Stagliano KER, Teague HL, Mehta NN, Pirooznia M, Sack MN. Fasting-induced FOXO4 blunts human CD4+ T helper cell responsiveness. Nat Metab. 2021 Mar;3(3):318-326. doi: 10.1038/s42255-021-00356-0. Epub 2021 Mar 15.
PubMed 33723462
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiovascular Disease Discovery Protocol
- ClinicalTrials.gov ID
- NCT01143454
- Acronym / sponsor ID
- 100126
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy, Atherosclerosis, Inflammatory Disease
- Keywords
- Cardiac Disease, iPS Cells, Cardiac Risk Factors, Cardiac Disease Discovery, Natural History, Heart Disease, Heart Disease Risk
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 21 Jul 2010 (actual)
- First posted
- 14 Jun 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 1. Adult index cases and relatives | – | Device: NSR IDE-MRI: Research pulse sequencesEnrolled 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 | – | Device: NSR IDE-MRI: Research pulse sequencesChildren 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. |
Who may qualify
- Ages
- 1 year to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 1. Adult index cases and relatives 2. Child index case and child relatives 3. Healthy adult volunteers 4. Illiterate, Blind, or Non-English-Speaking Subjects
Key inclusion criteria (3 listed)
- 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 cases 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NSR IDE-MRI: Research pulse sequencesNSR IDE-MRI: Research pulse sequences, Device Manufacturer NIH. Research pulse sequences are customized pulse sequences and analysis software developed by NIH scientists. | Device | 1. Adult index cases and relatives, 2. Child index case and child relatives |
Primary outcome
Disease Diagnosis
Time frame: Ongoing
This protocol will allow condition-specific evaluation and sample collection to subjects with conditions associated with cardiovascular features and risk that may have long eluded diagnosis and to advance medical knowledge about rare and uncommon human diseases.
2 secondary outcomes
Potential genetic counseling
Time frame: Ongoing
Understanding disease pathophysiolgy
Time frame: Ongoing
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Derived from this study: PubMed 42048163Han K, Klein RJ, Recupero TC, Russo AC, Sharma R, Gupta AK, Hassanzadeh S, Huffstutler RD, Dagur PK, Fisk B, Redekar NR, Sack MN. NAD+ augmentation by nicotinamide riboside engages SLIT2/ROBO1 signaling to attenuate Th17 inflammation in psoriasis. JCI Insight. 2026 Apr 28;11(12):e203826. doi: 10.1172/jci.insight.203826. eCollection 2026 Jun 22.
- Derived from this study: PubMed 37586364Han K, Singh K, Meadows AM, Sharma R, Hassanzadeh S, Wu J, Goss-Holmes H, Huffstutler RD, Teague HL, Mehta NN, Griffin JL, Tian R, Traba J, Sack MN. Boosting NAD preferentially blunts Th17 inflammation via arginine biosynthesis and redox control in healthy and psoriasis subjects. Cell Rep Med. 2023 Sep 19;4(9):101157. doi: 10.1016/j.xcrm.2023.101157. Epub 2023 Aug 15.
- Derived from this study: PubMed 33723462Han K, Singh K, Rodman MJ, Hassanzadeh S, Wu K, Nguyen A, Huffstutler RD, Seifuddin F, Dagur PK, Saxena A, McCoy JP, Chen J, Biancotto A, Stagliano KER, Teague HL, Mehta NN, Pirooznia M, Sack MN. Fasting-induced FOXO4 blunts human CD4+ T helper cell responsiveness. Nat Metab. 2021 Mar;3(3):318-326. doi: 10.1038/s42255-021-00356-0. Epub 2021 Mar 15.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Paul M Hwang, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Metabolic Disease and Obesity, run by National Heart, Lung, and Blood Institute (NHLBI) at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rebecca D Huffstutler, C.R.N.P. ((301) 594-1281, rebecca.huffstutler@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease Diagnosis (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01143454, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026; AzTrials last refreshed its copy on 26 Oct 2026.