Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Younglang Lee, Alex W Wessel, Jiazhi Xu...
https://pubmed.ncbi.nlm.nih.gov/35289316Actively Recruiting
Age: 3Years - 120Years
All Genders
Healthy Volunteers
ID00001372
Studies of the Pathogenesis and Natural History of Systemic Lupus Erythematosus (SLE) in Patients and Their Relatives
Led by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) · Updated on 2026-05-01
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying patients with systemic lupus erythematosus (SLE) and their relatives to better understand how the disease develops, changes over time, and the genetic factors that increase susceptibility. The study includes patients aged 3 years and older with known or suspected SLE, as well as their first and second-degree relatives. It aims to explore the natural history and mechanisms of organ damage caused by SLE using various clinical and laboratory evaluations. Participants will undergo medical history reviews, physical examinations, and routine blood and urine tests to assess disease activity and complications. Additional procedures may include electrocardiograms, 24-hour urine collections, imaging studies such as X-rays and MRIs, skin and organ biopsies, and genetic testing. Some patients may also participate in vascular studies. Relatives provide medical histories and DNA samples. Patients will be followed at least yearly, with some seen more frequently, and may be invited to join other related research studies. Throughout the study, researchers will collect samples and perform cardiovascular tests to identify biomarkers and better understand disease progression. Participants will be monitored for treatment effects and adverse events, with care coordinated with their physicians. The study may include healthy volunteers for comparison. The overall goal is to track the course of SLE and its impact, with ongoing assessments planned through the year 2050.
CONDITIONS
Official Title
Study of Systemic Lupus Erythematosus
Who Can Participate
Age: 3Years - 120Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Patients with known or suspected SLE established by ACR/EULAR or ACR criteria
- Ability to give informed consent
- Adults and minor first- and second-degree relatives of patients (for genetic studies) able to give informed consent
- Affected individuals aged 3 years and older, no upper age limit
- Healthy volunteers aged 18 years and older, no upper age limit
- Healthy first- and second-degree relatives aged 3 years and older, no upper age limit
- Adults aged 18 years and older for vascular studies, no upper age limit
You will not qualify if you...
- Medical problems that would confuse study results, such as HIV infection, active malignancies, or other significant conditions
- Medical, surgical, or other conditions without adequate care facilities at NIH
- Inability or unwillingness to comply with follow-up requirements
- Any medical or psychological condition or treatment judged by the Principal Investigator to exclude participation
- Unwillingness to participate in research or provide samples or data
- Conditions or medications that would interfere with study interpretation
- Contraindications to MRI for vascular studies (e.g., certain implants, metal fragments)
- Renal dysfunction with eGFR below 60 mL/min/1.73m2 for some imaging procedures
- Pregnancy or breastfeeding excluded from vascular studies
- Clinical instability preventing MRI
- Healthy controls with known coronary artery disease or vascular disease
- Individuals under 18 excluded from vascular studies due to radiation exposure and lack of validation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
S
Sarfaraz A Hasni, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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Published Research Related To This Trial
Boosting NAD+ blunts TLR4-induced type I IFN in control and systemic lupus erythematosus monocytes.
Jing Wu, Komudi Singh, Amy Lin...
https://pubmed.ncbi.nlm.nih.gov/35025762Neutrophil subsets and their gene signature associate with vascular inflammation and coronary atherosclerosis in lupus.
Philip M Carlucci, Monica M Purmalek, Amit K Dey...
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Pascal B Pfiffner, JiWon Oh, Timothy A Miller...
https://pubmed.ncbi.nlm.nih.gov/25334031