Study of Systemic Lupus Erythematosus

This research protocol will evaluate subjects with systemic lupus erythematosus (SLE) and
their relatives to study the pathogenesis and natural history of the disease and the
mechanisms leading to enhanced organ damage. Patients will be evaluated by a history and
physical examination and routine laboratory studies will be obtained as needed to assess
disease activity or complications of the disease and to monitor for drug-related toxicities.
Blood, skin or urine specimens may be requested for research purposes, including genetic
studies. In addition, a subset of these patients will undergo several tests to understand the
pathogenic changes affecting their blood vessels. Patients who are eligible for other
research protocols will be offered the opportunity to participate in these studies by signed
informed consent. Any medical care recommended or provided to the patient will be consistent
with routine standards of practice and provided in consultation with the patient s referring
physician. Blood and urine samples and cardiovascular testing will also be collected or
performed on healthy volunteers for research purposes and to support the identification and
validation of new biomarker candidates.

- INCLUSION CRITERIA:

- SLE or suspected SLE established by ACR criteria

- Ability to give informed consent

- Adult and minor relatives (first and second degree) of individuals Included in IV-G
(only for genetic studies)

- Ability of the patient or minor relative s parents to give informed consent

EXCLUSION CRITERIA:

- Concomitant medical problems which would confound the interpretation of studies
gathered by this protocol. Included in this is the presence of HIV in the blood,
active malignancies, or other significant medical conditions that may interferes with
interpretation of some lupus studies.

- Concomitant medical, surgical or other conditions for which inadequate facilities are
available to support their care at NIH.

- Inability or unwillingness to comply with follow up requirements (e.g. distance,
social, physical limitations)

- Any comorbidity of medical or psychological/psychiatric condition or treatment after
reviewing of patients previous or outside medical records, that in the opinion of the
Principal Investigator, would exclude the subjects from the research studies (e.g.
Patient

requiring urgent and/or acute medical care, surgical or other procedures)

-Unwilling to participate in research studies or to provide research samples or data

CRITERIA FOR HEALTHY CONTROL SUBJECTS:

- Inclusion Criteria:

- Age 18 years with no upper age limit.

- For vascular studies healthy control subjects will be age- and gender-matched.

- For genetic studies only: Minor relatives (first and second degree) of SLE
subjects Included in section IV-G.

- Ability to give informed consent or minor relative s parents to give informed
consent (for genetic studies only).

- Exclusion Criteria:

- Any concomitant medical problems or are taking medications which would confound
the interpretation of studies they are considered for

EXCLUSION CRITERIA FOR VASCULAR STUDIES ONLY, FOR SLE AND HEALTHY CONTROLS:

- Subjects with a contraindication to MRI scanning will not receive the optional
PET/MRI. These contraindications include subjects with the following devices:

- Central nervous system aneurysm clips

- Implanted neural stimulator

- Implanted cardiac pacemaker or defibrillator

- Cochlear implant

- Ocular foreign body (e.g. metal shavings)

- Implanted Insulin pump

- Metal shrapnel or bullet

- Subjects with a BMI >40 will also not receive the PET MRI.

- Subjects with renal excretory dysfunction, estimated glomerular filtration rate < 60
mL/min/1.73m(2) body surface area according to the Modification of Diet in Renal
Disease criteria, will not receive the cardiac CT angiography, or gadolinium contrast
agent during the PET/MRI.

- Pregnant or lactating women will be excluded from vascular studies.

- Healthy controls with known history of coronary artery disease, peripheral vascular
disease or atherosclerosis.

- Individuals younger than 18 years old will be excluded given the radiation exposure as
well as the lack of proper validation for the proposed vascular function studies.