NCT00001372

Brief Summary

This protocol will evaluate patients with systemic lupus erythematosus (SLE) and their relatives to learn more about how the disease develops and changes over time. It will also study genetic factors that make a person susceptible to SLE. Patients 3 years of age and older with known or suspected SLE and their relatives may be eligible for this study. Patients will be evaluated with a medical history and physical examination, blood and urine tests. Other procedures may include:

  1. 1.Electrocardiogram
  2. 2.24-hour urine collection
  3. 3.Imaging studies, such as chest and joint X-rays, magnetic resonance imaging (MRI) scans, bone scans, and bone densitometry.
  4. 4.Questionnaire about the degree of disease activity, and survey of risk factors for disease complications.
  5. 5.Apheresis-Collection of plasma (fluid portion of blood) or blood cells for analysis. Whole blood is collected through a needle in an arm vein. The blood circulates through a machine that separates it into its components. The required component (plasma or cells) is removed and the rest of the blood is returned to the body through the same needle or through a second needle in the other arm.
  6. 6.Skin biopsy-Removal of a small skin sample for microscopic analysis. An area of skin is numbed with an anesthetic and a small circular portion (about 1/4 inch in diameter) is removed, using a sharp cookie cutter-type instrument.
  7. 7.Kidney, bone marrow or other organ biopsy-Removal of a small sample of organ tissue. These biopsies are done only if they can provide information useful in better understanding the disease or making treatment decisions.
  8. 8.Genetic studies-Collection of a blood sample for gene testing.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,000

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 10, 1994

Completed
5.7 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 4, 1999

Completed
Last Updated

March 31, 2026

Status Verified

March 26, 2026

First QC Date

November 3, 1999

Last Update Submit

March 28, 2026

Conditions

Systemic Lupus Erythematosus

Keywords

Longitudinal StudyNatural HistoryLupus NephritisLupusSystemic LupusSLE

Outcome Measures

Primary Outcomes (1)

  • Natural History of SLE

    Natural History of SLE

    12/31/2050

Study Arms (3)

1

Longitudinal cohort study with affected SLE patients

2

Patient relatives

3

Unrelated healthy volunteers

Eligibility Criteria

Age3 Years - 120 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

subjects with systemic lupus erythematosus (SLE) and their relatives

You may qualify if:

  • Patients with known or suspected SLE will be evaluated in either the outpatient or inpatient research ward of the Clinical Center as indicated. Patients will not be selected based on age, race or gender. However, due to the nature of the disease, the patient population will not be expected to be evenly distributed, since SLE is predominantly a disease of young females, with increased prevalence in select racial groups, particularly African Americans and Hispanics. First and second-degree relatives of the patient may be recruited in the study for genetic analysis. We will ask for the patient s permission to contact his/her relatives.
  • SLE or suspected SLE established by ACR/EULAR or 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
  • Affected individuals age \>= 3 years with no upper age limit
  • Healthy Volunteers (non-related) age \>=18 with no upper age limit
  • Healthy Volunteers (first- and second-degree relatives) age \>=3 with no upper age limit
  • Vascular studies adults only age \>=18 with no upper age limit

You may not qualify if:

  • 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
  • Any concomitant medical problems or are taking medications which would confound the interpretation of studies they are considered for
  • Subjects with a contraindication to MRI scanning will not receive the optional Cardiovascular MRI. These contraindications include subjects with the following devices:
  • Central nervous system aneurysm clips unless it is labeled safe or conditional for MRI
  • Implanted neural stimulator (e.g.TENS-Unit) unless it is labeled safe or conditional for MRI
  • Implanted cardiac pacemaker or defibrillator unless it is labeled safe or conditional for MRI
  • Cochlear or any type of ear implant unless it is labeled safe or conditional for MRI
  • Ocular foreign body (e.g. metal shavings)
  • Implanted Insulin pump or drug infusion device unless it is labeled safe or conditional for MRI
  • Metal shrapnel or bullet unless cleared by plain x-ray as safe for MRI
  • Pregnant or lactating women will be excluded from vascular studies.
  • +3 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (4)

  • Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP. Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype. J Clin Invest. 2022 Mar 15;132(6):e128808. doi: 10.1172/JCI128808.

    PMID: 35289316DERIVED

  • Wu J, Singh K, Lin A, Meadows AM, Wu K, Shing V, Bley M, Hassanzadeh S, Huffstutler RD, Schmidt MS, Blanco LP, Tian R, Brenner C, Pirooznia M, Kaplan MJ, Sack MN. Boosting NAD+ blunts TLR4-induced type I IFN in control and systemic lupus erythematosus monocytes. J Clin Invest. 2022 Mar 1;132(5):e139828. doi: 10.1172/JCI139828.

    PMID: 35025762DERIVED

  • Carlucci PM, Purmalek MM, Dey AK, Temesgen-Oyelakin Y, Sakhardande S, Joshi AA, Lerman JB, Fike A, Davis M, Chung JH, Playford MP, Naqi M, Mistry P, Gutierrez-Cruz G, Dell'Orso S, Naz F, Salahuddin T, Natarajan B, Manna Z, Tsai WL, Gupta S, Grayson P, Teague H, Chen MY, Sun HW, Hasni S, Mehta NN, Kaplan MJ. Neutrophil subsets and their gene signature associate with vascular inflammation and coronary atherosclerosis in lupus. JCI Insight. 2018 Apr 19;3(8):e99276. doi: 10.1172/jci.insight.99276. eCollection 2018 Apr 19.

    PMID: 29669944DERIVED

  • Pfiffner PB, Oh J, Miller TA, Mandl KD. ClinicalTrials.gov as a data source for semi-automated point-of-care trial eligibility screening. PLoS One. 2014 Oct 21;9(10):e111055. doi: 10.1371/journal.pone.0111055. eCollection 2014.

    PMID: 25334031DERIVED

Related Links

MeSH Terms

Conditions

Lupus Erythematosus, SystemicLupus Nephritis

Condition Hierarchy (Ancestors)

Connective Tissue DiseasesSkin and Connective Tissue DiseasesAutoimmune DiseasesImmune System DiseasesGlomerulonephritisNephritisKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital Diseases

Study Officials

  • Sarfaraz A Hasni, M.D.

    National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Sarfaraz A Hasni, M.D.

CONTACT

(301) 451-1599hasnisa@mail.nih.gov

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 3, 1999

First Posted

November 4, 1999

Study Start

February 10, 1994

Last Updated

March 31, 2026

Record last verified: 2026-03-26

Data Sharing

IPD Sharing
Will not share

We plan to share aggregate data for analysis. Any IPD shared will be deidentified and coded.

Locations

US(1)