Rheumatology SAMPLE (Specimen And Matched Phenotype Linked Evaluation) Registry and Biorepository
Brief description of study
In this research proposal, we will develop a clinical registry containing information related to the patient’s ethnicity, race, gender, age, medications, specific disease or state of health and biorepository (tissue bank collection of blood samples, urine, and feces) of patients with autoimmune and rheumatic diseases, including but not limited to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), psoriatic arthritis, Sjogren’s syndrome, gout, anti-phospholipid syndrome (aPLS), Behςet’s Disease and other forms of inflammatory arthritis. In addition, we will develop a biorepository for healthy individuals without autoimmune rheumatic diseases, as well as for healthy individuals who may be related to a patient with an autoimmune and rheumatic disease. The scientific objective is to understand what factors contribute to the risk of getting an autoimmune and/or rheumatic disease, what factors make the disease worse, what factors relate to whether a therapy helps improve disease, and what factors lead to health problems other than the specific disease. For this purpose, electronic medical records will be reviewed and subjects will complete disease-targeted questionnaires (listed in study design) that are part of the standard of care for management of the specific rheumatic disease. A biorepository (tissue bank) will be developed for the storage of genetic material (DNA), blood cell RNA, plasma, serum, feces, urine, and lymphoblastoid cell lines (LCLs) from patients with these autoimmune and/or rheumatic diseases and healthy individuals. These materials will be used in basic science investigations of the pathogenesis of disease, and will also be used in translational research projects that will correlate the clinical characteristics and responses to treatment at NYU. Specifically, examples of the types of studies to be done include but are not limited to: 1) targeted genetic assays for single nucleotide polymorphisms (SNPs) of candidate genes (e.g. TNF, IL6, IL23), as well as genome-wide platforms for empiric-based analyses using genome wide association study (GWAS) approaches; 2) transcript-based assays of candidate gene expression (e.g. interferon-related genes) as well as empiric-based broader approaches (full transcriptome); 3) serum and plasma assays for specific autoantibodies (e.g. citrullinated peptide antibodies), secreted proteins (e.g. cytokines) that can be measured using proteomic assays (e.g. ELISA and other techniques); urine for markers of tissue/organ catabolism/damage; 4) stool samples for 16S DNA bacterial DNA sequence and whole-genome shotgun-sequence determinations for characterization of the microbiome (3) (4-6) (7) (8), and 5) discovery of Quantitative Trait Loci (eQTLs) of LCLs. Repeat sampling and clinical data collection will be needed. These studies may or may not affect treatment or determine prognosis for an individual subject. However, a potential benefit of this research includes the possibility of finding a marker that predicts a response to therapy representing information which may be useful to future patients.
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