By Institution

BRASS is a prospective observational study of >1500 patients with rheumatoid arthritis at the Robert Breck Brigham Arthritis Clinic in Boston, MA. The study began enrollment in March 2003 and plans to have a total of 20 years of follow-up.  Annual study visits occur in coordination with clinical appointments to obtain validated measures of RA disease activity, patient reported outcomes, and blood samples. Hand radiographs are taken every 2-3 years with Sharp Score data available on over 2800 x-rays. Every six months, subjects are mailed questionnaires inquiring about functional status, medication changes, healthcare utilization, RA flares, and socioeconomic status. The Brigham Rheumatoid Arthritis Sequential Study (BRASS) is a large, single-center, prospective, longitudinal observational registry that follows > patients 18 years or older with confirmed RA through the BWH Arthritis Center. Founded in 2004 by co-PIs Michael Weinblatt and Dr. Nancy Shadick, BRASS continues to recruit actively. Baseline and serial data collection by treating physicians and a trained BRASS research coordinator include joint count, physician global assessment, medications, smoking, co-morbidities, infections, pregnancies, health care resource utilization, disability, depression, and sleep. Patients self-report functional status and quality of life. Serum, plasma, RNA and DNA are collected annually; hand and wrist radiographs are taken every two years. Samples are tested for RF, CCP and CRP. The BRASS Biorepository contains over 58,000 samples. BRASS co-PI Dr. Shadick is a JBC co-investigator and will facilitate JBC member requests. Principal Investigators: Dr. Nancy Shadick and Dr. Michael Weinblatt

• Disease: rheumatoid arthritis
• Samples available: DNA, RNA, plasma, serum, EMR data (sociodemographics, comorbidities, medications, and laboratory values), and genotypes
• Detailed survey measures available: RA disease activity (DAS28, CDAI, RADAI), structural joint disease (Sharp van der Heijde score), functional status (MD-HAQ, EQ-5D), patient-reported outcomes (SF-12, PHQ-9, MHI-5, MOS Sleep Scale), DMARD changes, morning stiffness, sleep, flares, infections, and pain among others
• Re-contact and prospective recruitment is available
• Number of subjects with samples: >1590

COPPAR is a prospective observational study of patients with psoriatic arthritis at the Robert Breck Brigham Arthritis Clinic in Boston, MA. Annual study visits occur in coordination with clinical appointments to obtain validated measures of psoriatic arthritis disease activity, patient reported outcomes, and blood samples. Hand radiographs are taken every 2-3 years with Sharp Score data available on over 2800 x-rays. Every six months, subjects are mailed questionnaires inquiring about functional status, medication changes, healthcare utilization, RA flares, and socioeconomic status. In addition, this registry includes plasma, PBMCs, DNA, and RNA samples as well as skin biopsies of psoriatic plaques.

• Principal Investigators: Joseph Merola
• Diseases: psoriasis and psoriatic arthritis
• Healthy controls available
• Samples available: DNA, plasma, cells, synovial tissue and, survey data
• Prospective recruitment
• Number of samples: >600

PROSET-HD- PROfiling of cell subSETs in Human Disease was established at BWH in 2013, under Michael Brenner and JBC Associate Director Dr. Rao, to facilitate detailed analyses of blood and tissue samples from patients with rheumatic diseases. A full-time research coordinator in the BWH Arthritis Center enrolls patients in PROSET-HD and often concomitantly in the MGB Biobank. Patients donate blood for cellular immunophenotyping and grant full EHR access. Serum, plasma, and DNA for genotyping are stored at the MGB Biobank, while PBMC are obtained from fresh blood by ficoll. Since 2013, >500 patients have been enrolled, including >200 RA patients, >70 SLE patients, >50 spondyloarthropathy patients, >70 patients with other inflammatory conditions, 26 individuals with CCP+ without RA, and >100 patients with non-inflammatory joint conditions. Synovial fluid samples are regularly collected, and synovial fluid mononuclear cells are isolated and cryopreserved. Unique features are the extensive archive of live cells matched with clinical phenotype and genotyping through the MGB Biobank. Principal Investigators: Dr. Michael Brenner and Dr. Deepak Rao

• Diseases: rheumatoid arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, psoriatic arthritis, juvenile idiopathic arthritis, polymyalgia rheumatica, spondyloarthritis
• Samples available: PBMCs and EMR data (sociodemographics, comorbidities, medications, and laboratory values), including diagnosis, medications, CRP, RF/CCP, ANA, CDAI
• Re-contact and prospective recruitment is available
• Number of samples: >575

The BWH Division of Rheumatology, Immunology and Allergy have maintained an extensive repository of > 2800 samples obtained by clinical discards from the rheumatology clinic.  Consented patients donate blood and synovial samples as well as discarded samples after arthrocentesis and joint replacement surgery.

• Principal Investigator: Dr. Peter Nigrovic
• Diseases: rheumatoid arthritis, systemic lupus erythematosus, osteoarthritis, gout, pseudogout, psoriatic arthritis
• Healthy controls available
• Samples Available: DNA, plasma, serum, cells, synovial fluid, and joint tissue
• Re-contact is available for some patients
• Number of samples: >2840

BWH Systemic Lupus Erythematosus Registry dates back to 1992, including 2337 SLE patients who meet ACR classification criteria for SLE. JBC member Dr. Karen Costenbader has led an associated biorepository since 2008, now including approximately 250 consented subjects who have provided whole blood, serum and DNA samples for research, associated with clinical data including SLEDAI and SLAM. The SYLVER substudy collects serial samples on new-onset untreated SLE. In addition, the MGB Biobank includes >470 SLE patients (defined by a computed algorithm) with stored samples and consent for re-contact, and the BWH Arthritis Repository has samples on an additional 190 patients. Unique features include detailed phenotype and new-onset disease.

• Principal Investigator: Karen Costenbader
• Disease: systemic lupus erythematosus
• Samples available: DNA, plasma, whole blood, EMR data (date of diagnosis, past medications, recent and past laboratories, clinical manifestations and organ involvement, lupus serologies, disease activity and organ damage), and survey data(demographic data, past medical history, family history, medications, allergies, exercise, medication adherence, smoking, alcohol intake, and other recent exposures)
• Number of samples: >470

SpADE- Spondyloarthritis Disease Exploration, led by JBC member Dr. Joerg Ermann collects of blood from patients with axial spondyloarthritis identified by a validated EHR algorithm (N=1509), non-inflammatory chronic back pain, and healthy controls, storing plasma, DNA, and PBMC; samples collected from >90 patients to date. Unique features include key matched controls.

The Osteoarthritis Registry of Biomarkers and Imaging Trajectories (ORBIT) is a registry of 100 patients with radiographically mild to moderate, symptomatic knee osteoarthritis lead by Dr. Jeffrey Katz. ORBIT includes baseline and 12-month follow up time-points and may soon include a 24-month time point. At each visit participants complete validated queries on pain, function, and psychosocial characteristics, and serum, plasma, RNA, DNA, and urine are banked. Bilateral knee MRIs and bilateral knee radiographs are obtained along with muscle strength, knee range of motion, and performance tests. The 12-month visit also includes quantitative sensory testing to inform central pain processing and sensitization. Unique features include serial samples, imaging, and highly detailed phenotypes.

In this study, synovial biopsy is performed by investigators using direct ultrasonographic guidance. Participants are research volunteers with or without active inflammatory arthritis. Blood samples and potentially synovial fluid samples are also obtained concurrently.

• Principal Investigator: Dr. Derrick Todd
• Diseases: rheumatoid arthritis, inflammatory arthritis
• Control: Healthy controls, when available
• Samples available: DNA, plasma, cells, synovial fluid, synovial tissue, and EMR data (sociodemographics, comorbidities, medications, and laboratory values)
• Number of samples: 2

This repository includes samples from patients with psoriasis and psoriatic arthritis including plasma, PBMCs, DNA, and RNA as well as skin biopsies of psoriatic plaques.

• Principal Investigators: Dr. Joseph Merola
• Diseases: psoriasis and psoriatic arthritis
• Healthy controls available
• Samples available: DNA, plasma, cells, synovial tissue and, survey data
• Prospective recruitment is available
• Number of samples: >420 as of July 7, 2016

New Onset JIA Biorepository was founded by Nigrovic in 2007, Eligible subjects are recruited from the BCH Rheumatology Clinic by a trained RC; parents provide consent, while patients >9y provide assent, including re-contact for future sample collection. Data include demographics, clinical phenotype, active joint count, family history, ANA, RF and anti-CCP positivity, ESR, CRP, and the MD visual analog score. Subjects complete the Childhood Health Assessment Questionnaire (CHAQ), a validated quality of life measure. Prospective medical record review allows outcome tracking. Serum, plasma, DNA, RNA, and (in a subset) PBMCs are banked, while discard synovial fluid samples are collected from therapeutic and/or diagnostic joint aspirations. Healthy controls provide a source of large-volume healthy donor pediatric blood. To date, >330 subjects have been enrolled, Unique features are 1) large size for a pediatric registry; 2) longitudinal data; 3) all samples are pre-treatment (“golden samples”), reflecting unmanipulated JIA biology. Principal Investigator: Dr. Peter Nigrovic

• Disease: juvenile idiopathic arthritis
• Samples available: DNA, RNA (Tempus, on a subset), serum, PBMCs (on a subset) and open access to medical record data
• Healthy controls available
• Re-contact is available
• Number of samples: >330

Rheumatic Diseases of Childhood Biorepository at Boston Children’s Hospital was founded by Dr. Henderson and Dr. Nigrovic in 2013 to extend sample collection to patients with any rheumatic or inflammatory disease, at any phase of treatment, as well as relevant disease / healthy controls. Samples are from >440 patients including prevalent JIA, pediatric SLE, juvenile dermatomyositis, periodic fever syndromes, pediatric patients with polyautoimmunity seen in Dr. Henderson’s Multiple Autoimmunity and Immunodeficiency (MAID) Clinic, and controls. EHR data are supplemented by a questionnaire completed by the treating physician, including demographics, disease presentation, disease course, prior/current treatment, family history, physical exam findings, laboratory parameters of disease activity, and quality of life measures. Samples collected include plasma, PBMCs, and synovial fluid cells. In collaboration with Dr. Fatma Dedeoglu, blood and tonsillar tissue is available from patients with PFAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis). Unique features include paired simultaneous blood and synovial fluid mononuclear cells (n>80), non-arthritic pediatric controls, and early-onset and multi-autoimmunity patients. Principal Investigators: Dr. Lauren Henderson and Dr. Peter Nigrovic

• Disease: JIA, pediatric SLE, juvenile dermatomyositis, and PFAPA
• Healthy controls available
• Samples available: DNA, RNA, serum, PBMCs, and open access to medical record data. Where available, synovial fluid samples paired with blood are also collected from JIA patients.
• Re-contact is available
• Number of samples: >440

The Healthy Children Bioarchive, led by Dr. Nigrovic collected a bank of serum/plasma from >600 healthy children through 3 mechanisms. 1) Discarded samples from lead testing in the primary care practices of BCH (9 months – 6 years, n=431). 2) Consented samples from patients recruited at BCH to become part of a healthy pediatric DNA cohort (PI: Dr. Ingrid Holm; Dr. Nigrovic collected associated plasma samples in n=238, age 2-16, in whom Dr. Holm maintains full clinical phenotype and matched DNA). 3) Consented patients (typically age 10 and above) seen in the BCH rheumatology clinic for non-inflammatory disease and recruited under biorepositories above. Large serum volumes (>10ml) are available for these latter patients, who have provided consent for re-contact, re-sampling, and EHR review (n>20). The main unique feature is the difficult-to-recruit healthy child population, helping this bioarchive to play a key role in understanding age-dependent changes in pediatric humoral immunity and to establish normal ranges for new assays. Principal Investigator: Dr. Peter Nigrovic

• Samples available: plasma and serum
• No re-contact

Number of samples: >690

This institutional biorepository provides investigators access to precious pediatric biospecimens. Patients are now enrolled remotely through email, allowing robust ongoing recruitment despite COVID-19. Over 16,000 children have donated a research blood sample, permitted discard clinical samples (including tissue samples and cerebrospinal fluid), consenting to EHR data linkage and future re-contact. All discard tissue samples from Biobank patients processed by pathology are automatically routed for storage. Biospecimen metadata are extracted from the EHR and accessible to investigators through an online Discovery Portal. This Biobank has clinical WES on 4,000 patients and genotype microarray data on 1,900 patients.

• Principal Investigator: Florence Bourgeois
• Samples available: 1) all discarded specimens collected in the process of routine clinical care, including blood, plasma, cerebrospinal fluid, urine, biopsies, aspirates, and tissue specimens from any organ; 2) Research blood specimen for DNA extraction; and 3) all clinical data available through the EMR.
• Re-contact and prospective recruitment is available

Number of participants enrolled: >16,000

Childhood Arthritis and Rheumatology Research Alliance Biobank (CARRA) is the largest pediatric rheumatology research network in North America, with >100 sites and 71 active research sites, of which 55 collect biosamples (DNA, plasma, serum, PBMCs, whole-blood RNA). Over 10,000 children with rheumatic diseases participate in the CARRA Registry. RCs throughout CARRA are trained to harmonize collection and processing procedures, archived at Cincinnati Children’s Hospital and the Hospital for Sick Children in Toronto. To date, >820 biosamples have been collected and stored in the CARRA Biobank from children with JIA, JDM, SLE, and scleroderma, prioritizing new-onset untreated disease. The JBC has approval from CARRA to facilitate access to these samples for JBC members.

The Mass General Brigham (MGB) Biobank: Biobank is a collection of >130,000 patients who have donated DNA, serum, and plasma samples and are fully consented for a) broad use for genomics, biomarker, epidemiology research, b) linkage with EHR and survey data, c) recall for additional biologic sampling, and d) data sharing with national databases and approved collaborators. The Biobank currently enrolls >1,000 subjects per month, with a recruitment goal of 200,000 fully consented subjects and 150,000 stored DNA samples. To date, 36,440 subjects have been genotyped on the Illumina Multi-Ethnic GWAS/Exome SNP Array (MEGArray), containing 1.6M SNPs. Whole exome sequencing (WES) has been completed on 14,000 subjects with ongoing WES to a goal of 60,000 subjects planned. Genotyping/imputed genotypes and WES results are supplied free of charge to JBC investigators. Plasma samples are frozen within 4 hours to enable high-quality proteomics. Biobank co-PI Dr. Elizabeth Karlson and JBC Recruitment Lead Dr. Jeffrey Sparks will facilitate JBC member requests.

• Principal Investigators:  Scott Weiss and Dr. Elizabeth Karlson
• Samples: DNA, serum and plasma that are linked to EMR data including labs, imaging, ICD-9/10 codes, survey data (smoking, weight, height, alcohol and other exposures from a self- administered standardized questionnaire), and computed clinical phenotypes (based on machine learning algorithms) stored in the Biobank Portal
• Re-contact is available for 130,000+ consented patients
• Number of samples: >77,000 DNA, >56,000 plasma, >56,000 serum Contact biobank@partners.orgfor grant proposals, sample/data requests, recruitment.

RPDR is a data warehouse of all electronic health record (EHR) data from Massachusetts General Hospital, Brigham and Women’s Hospital, Faulkner Hospital, Spaulding Rehabilitation Hospital, and Newton Wellesley Hospital available for research purposes. RPDR gathers 2.5 billion rows of data from multiple Mass General Brigham (MGB, formerly Partners HealthCare System) into a Microsoft SQL Server database. Security and distribution of patient data is controlled and audited according to IRB and HIPAA guidelines; all patient identifiers are encrypted throughout the database to protect privacy. RPDR contains data on 6.5 million patients including demographics, diagnoses (e.g., ICD-9/10 codes), procedures (e.g., CPT codes), pharmacy data (e.g. RxNorm), inpatient and outpatient encounter information, provider information, laboratory data, imaging and pathology data. Researchers may query the RPDR using an online query tool for aggregate totals of patients in the Biobank that have a rheumatic disease diagnosis according to validated phenotype algorithms, ICD-9/ICD-10, medications, other EHR data along with sample availability and genotype results.. Faculty at MGB have access to RPDR. Trainees need to be added to a faculty member’s workgroup.  With IRB approval, researchers can download identifiable datasets including medical record numbers and clinical notes.

• Principal investigator: Shawn Murphy
• EHR data available: transfusion, cardiology, contact information, demographics, diagnoses, discharge notes, endoscopy, laboratory tests, allergies, health maintenance, medications, notes, problems, vital signs, medications, microbiology, operative notes, pathology reports, procedures, providers, radiology reports, radiology tests, transfusion, and laboratory results. Images from hospital image repositories can be returned and viewed online.

Rheumatoid Arthritis in the MGB Biobank was founded by Dr. Jeffrey Sparks in 2020, this biobank includes samples from MGB Biobank patients with RA identified by validated biomedical informatic algorithms^18,54 with plasma, serum, and DNA banked for research. EHR and survey data are available, and patients are consented for re-contact for other research studies. Approximately 70% of patients have genome-wide genotyping available and many will soon have whole exome sequencing. Unique features include rich phenotype data including: RA duration, RA serologic status, RA-related medications, hand bone erosions, smoking pack-years, body mass index, and RA-related lung disease presence and date of onset.

• Principal Investigator: Jeffrey Sparks
• Samples: DNA, serum and plasma that are linked to EMR data including labs, imaging, ICD-9/10 codes, survey data (smoking, weight, height, alcohol and other exposures from a self- administered standardized questionnaire), and computed clinical phenotypes (based on machine learning algorithms) stored in the Biobank Portal
• Number of patients: >2,000

The Crimson core in the clinical laboratories at Brigham and Women’s Hospital supports prospective collection of discarded blood (leftover from clinical testing) from over 10,000 clinical laboratory samples processed daily at Brigham and Women’s Hospital, Massachusetts General Hospital, and the Dana-Farber Cancer Institute. Crimson enables rapid and cost-effective assembly of samples from patients spanning the spectrum of health and disease in human populations.

• Samples: de-identified samples of discarded specimens from clinical draws of patients identified through RPDR, which can include blood, urine, stool, and surgical specimens.