Overview

Principal Investigator

Robert A. Colbert, M.D., Ph.D.

Robert Colbert, M.D., Ph.D., leads a team of scientists in the Pediatric Translational Research Branch studying the etiology and pathogenesis of early onset arthritis, including axial disease in juvenile spondyloarthritis.

Acting Clinical Director

Portrait of Robert Colbert.

Robert A. Colbert, M.D., Ph.D.

In addition to overseeing his laboratory research program studying the etiology and pathogenesis of early onset arthritis, Dr. Colbert directs the NIAMS clinical research program, which includes disease-focused clinical units, the rheumatology and dermatology clinical training programs, and community outreach efforts.

The Clinical Research Programs at NIAMS conducts patient-based investigation in the areas of rheumatic, skin, muscular and inflammatory diseases, and train the next generation of physician-scientists and clinician-investigators in these areas. As part of the NIH intramural research program, the program is uniquely positioned to perform clinical and translational studies in the NIH Clinical Center, the world’s largest hospital and outpatient facility devoted exclusively to clinical investigation.  The NIAMS has a long and successful history of clinical investigation into the pathogenesis and treatment of rheumatic diseases dating back to the 1960’s, with emphases on systemic lupus, rheumatoid arthritis, inflammatory muscle disease, and hereditary periodic fever syndromes, now recognized to be part of the spectrum of autoinflammatory diseases, a term coined at NIH. These studies stem from the interests of the clinical and basic investigators in the Institute as well as through aligning with the strengths of the NIH Clinical Center, including the study of rare diseases, innovative proof-of concept (PoC) clinical trials, and longitudinal clinical studies.

The NIAMS clinical research program, in partnership with other NIH intramural research programs, currently focuses its research in the areas of autoinflammatory diseases, Systemic Lupus Erythematosus, spondylarthropathies, outcomes research, vasculitis, myositis, and selected bone and dermatological diseases.

Translational Research: The Bridge Between Basic Research and Clinical Disease

A goal of clinical investigation is to bridge information gained from laboratory research with that afforded by clinical experience. Carefully designed observational and interventional studies provide opportunities to verify basic biological understanding of disease. These studies then bring back to the laboratory new insights into the normal functioning of the organ and cellular systems underlying human health and disease.

Training Programs

The NIAMS Clinical Research Program includes ACGME-certified Adult Rheumatology Fellowship Training Program, a joint Pediatric Rheumatology Fellowship Program with Childrens’ National Medical Center in Washington, DC, and Advanced basic, translational clinical research training in Rheumatology and Dermatology through the NIAMS Scholars in Translational Research Program.

NIAMS Community Health Clinic

In addition to its disease-focused clinical research programs, NIAMS operates a community health clinic which provides specialist care and screening for participation in clinical research studies for underserved patients in the local area with serious rheumatological conditions. The clinic is located on the NIH campus in Bethesda, Maryland.

Staff

Acting Clinical Director
Chief
301-443-8935
Staff Assistant
301-451-4362
Postbac Fellow
301-827-8319
Nurse Practitioner
301-496-4644
Protocol Manager
301-451-1221
Contractor
301-451-4362
Research Coordinator; Study Nurse
301-451-6761
Scholar
301-496-9773
Henry Metzger Scholar in Translational Medicine
301-443-8541
Director, Lupus Clinical Research Program
301-451-1599
Rheumatology Fellowship Coordinator
301-594-0925
Program Director
301-451-6807
Research Nurse Specialist
301-496-0862
Clinical Fellow
301-451-9595
Clinical Data Analyst
301-827-0546
Research Nurse Specialist
301-451-1450
Research Nurse Specialist
301-496-2237
Patient Care Coordinator
301-451-4650
Clinical Research Nurse Specialist
301-435-4489
Postbac Fellow
301-827-0074
Contractor
301-435-8044
Research Nurse Specialist
301-827-0186
Clinical Operations Manager
301-402-4542
Clinical Research Nurse Specialist
301-451-4990
Patient Care Coordinator
301-496-0764

Studies Seeking Patients

The Clinical Program is engaged in several observational studies to understand the natural history of several rheumatic diseases and to test therapeutic interventions. For more information or to access a Protocol, please search the database of clinical studies being conducted at the NIH Clinical Center.

Ankylosing Spondylitis and Spondylarthritis

  • 04-AR-0205: Progression of Spinal Fusion in Ankylosing Spondylitis. This pilot study seeks to determine if a CT (computerized tomography) scan can measure changes in fusion of the spine better than regular X-rays.
  • 03-AR-0131: Genetic Determinants of Ankylosing Spondylitis Severity - Longitudinal Study. This study will explore how genes may influence the severity of ankylosing spondylitis, a form of arthritis that affects the spine.
  • 11-AR-0223: Studies on the Natural History and Pathogenesis of Spondyloarthritis (SpA). The National Institute of Arthritis and Musculoskeletal and Skin Diseases is conducting a study to learn more about the early signs and symptoms of SpA. The goal of this study is to follow the activity and progression of SpA. Patients will be screened with a comprehensive individual history and a physical examination that includes a detailed musculoskeletal exam. Participants of any age with a diagnosis of SpA may be eligible. This protocol will serve as a screening protocol for a future SpA treatment protocol.

Arthritis

  • 00-AR-0222: Studies of the Pathogenesis and Natural History of Arthritis and Related Conditions. This study admits patients with rheumatoid arthritis or juvenile rheumatoid arthritis. The goal is to understand the progression of the disease and the associated medical conditions.
  • 13-AR-0056: Stopping Anti-TNF Agents in Rheumatoid Arthritis (STARA) Trial Stopping TNF-alpha agents in Rheumatoid Arthritis . The goal of this randomized clinical trial is to test if patients with rheumatoid arthritis in remission while taking TNF-alpha inhibitors can remain in remission after withdrawal of these medications, and to determine predictors of relapse.
  • 03-E-0099: Pathogenic Studies in Families of Twins or Siblings Discordant for Systemic Rheumatic Diseases. Patients diagnosed with adult or juvenile systemic lupus erythematosus within the past four years and their healthy same gender-siblings are part of a study to evaluate environmental and genetic risk factors for systemic autoimmune diseases. When available, parents also enroll. The study involves patient questionnaires, blood testing, and a physician evaluation. Further clinical evaluation may be performed as indicated when enrolling at the NIH Clinical Center. Patients may enroll from the NIH Clinical Center in Bethesda or through their local physician’s office. (Contact: Adult patient referrals: Dr. Adam Schiffenbauer at schiffenbauera2@niehs.nih.gov; Pediatric patient referrals: Dr. Lisa Rider at riderl@mail.nih.gov).

Health Disparities

  • 01-AR-0227: Natural History of Rheumatoid Disease in Minority Communities. This study is designed to address the differences in clinical manifestations and severity of rheumatologic disease in African-Americans and Hispanic individuals.

Healthy Volunteers

  • 02-AR-0131: Collection of Blood Components Using Apheresis from Patients with Rheumatic Diseases and Healthy Volunteers. Blood components will be collected using apheresis from normal volunteers and patients with rheumatic diseases. Mononuclear cells and plasma will be used by various investigators for research studies.
  • 03-E-0099: Pathogenic Studies in Families of Twins or Siblings Discordant for Systemic Rheumatic Diseases
  • 11-E-0072: Environmental Risk Factors for the Anti-Synthetase Syndrome, the MYORISK Study
  • 13-E-0015: Environmental Risk Factors for the Development of Myositis in Military Personnel. For the three studies above, healthy volunteers matched to adult and pediatric myositis/autoimmune disease patients will be eligible for enrollment in these studies. Enrollment generally consists of a physician evaluation, patient questionnaires and blood testing.(Contact: Ms. Tasia Long at longtm@niehs.nih.gov).
  • 14-AR-0200: Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis

Immunodeficiency

  • 99-AR-0004: Molecular Basis of Primary Immunodeficiencies. This study is to identify the genetic basis for immunodeficiencies in patients for whom the genetic basis is unknown. The goal is to identify genes important in the immune system regulation which are mutated or defective in patient with primary immunodeficiencies.

Melorheostosis

  • 15-AR-0165 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis — a Rare Osteosclerotic Disease. The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses. All eligible patients are invited to participate in this protocol. Patients are adults aged 18 years or older with possible melorheostosis (suspected or confirmed).

Myositis

  • 91-AR-0196: Studies of the Natural History and Pathogenesis of Polymyositis, Dermatomyositis and Related Diseases. This study admits patient with polymyositis, dermatomyositis and other muscle diseases. The goal is to understand the progression of these diseases.
  • 03-E-0099: Pathogenic Studies in Families of Twins or Siblings Discordant for Systemic Rheumatic Diseases. Patients diagnosed with adult or juvenile systemic lupus erythematosus within the past four years and their healthy same gender-siblings are part of a study to evaluate environmental and genetic risk factors for systemic autoimmune diseases. When available, parents also enroll. The study involves patient questionnaires, blood testing, and a physician evaluation. Further clinical evaluation may be performed as indicated when enrolling at the NIH Clinical Center. Patients may enroll from the NIH Clinical Center in Bethesda or through their local physician�s office. (Contact: Adult patient referrals: Dr. Adam Schiffenbauer at schiffenbauera2@niehs.nih.gov; Pediatric patient referrals: Dr. Lisa Rider at riderl@mail.nih.gov).
  • 11-E-0072: Environmental Risk Factors for the Anti-Synthetase Syndrome, the MYORISK Study. Adults and children with dermatomyositis or polymyositis who are within one year of diagnosis are potentially eligible for this study. The goal is to evaluate environmental factors that may be important to illness onset in myositis patients with certain autoantibodies (such as Jo1) compared to those without these autoantibodies and to healthy control subjects. The study involves patient questionnaires, blood testing, a vacuum dust sample, and a physician evaluation. Further evaluation, including heart and lung studies and imaging, may be performed as clinically indicated when enrolling at the NIH Clinical Center. Patients may enroll from the NIH Clinical Center in Bethesda, through another participating center, or through their local physician’s office. (Contact: study coordinator Ms. Tasia Long at longtm@niehs.nih.gov).
  • 13-E-0015: Environmental Risk Factors for the Development of Myositis in Military Personnel. Patients who developed myositis while serving on active duty in the military will be compared with military personnel who have not been diagnosed with an autoimmune disease or chronic muscle disease. The study will consist of a physician evaluation, as well as patient questionnaires and blood samples.A few patients will also contribute a muscle biopsy sample, if clinically indicated to perform this test. Patients may enroll from the NIH Clinical Center in Bethesda, through a participating military hospital or VA medical center, or through their local physician’s office. (Contact: study coordinator Mr. James Ridley: james.ridley@nih.gov).
  • 94-E-0165: Studies in the Natural History & Pathogenesis of Childhood-Onset and Adult-Onset Idiopathic Inflammatory Myopathies. This study enrolls patients with adult and juvenile dermatomyositis and polymyositis primarily. Patients generally only enroll if enrolling in another NIEHS study protocol. This study provides a thorough disease evaluation, including blood testing and imaging studies. Goals of the study include examination of genetic and environmental risk factors for myositis and natural history of the disease. (Contact: Adult patient referrals: Dr. Adam Schiffenbauer at schiffenbauera2@niehs.nih.gov; Pediatric patient referrals: Dr. Lisa Rider at riderl@mail.nih.gov).

Scleroderma

  • 03-E-0099: Pathogenic Studies in Families of Twins or Siblings Discordant for Systemic Rheumatic Diseases. Patients diagnosed with adult or juvenile systemic lupus erythematosus within the past four years and their healthy same gender-siblings are part of a study to evaluate environmental and genetic risk factors for systemic autoimmune diseases. When available, parents also enroll. The study involves patient questionnaires, blood testing, and a physician evaluation. Further clinical evaluation may be performed as indicated when enrolling at the NIH Clinical Center. Patients may enroll from the NIH Clinical Center in Bethesda or through their local physician�s office. (Contact: Adult patient referrals: Dr. Adam Schiffenbauer at schiffenbauera2@niehs.nih.gov; Pediatric patient referrals: Dr. Lisa Rider at riderl@mail.nih.gov).

Systemic Arthritis and Autoinflammation

  • 18-AR-0081: Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions.  This study aims to identify genetic and immunologic factors that contribute to sJIA/AOSD and related conditions and to determine their implications on inflammatory pathophysiology.  By doing so, we hope to identify novel therapeutic targets for inflammatory disease.

Systemic Lupus Erythematosus

  • 15-AR-0185 Safety of Tofacitinib, an Oral Janus Kinase Inhibitor, in Systemic Lupus Erythematosus; a Phase 1b Clinical Trial and Associated Mechanistic Studies. This study is to determine the safety and tolerability of tofacitinib, a JAK inhibitor, in patients with SLE and mild to moderate disease activity. Tofacitinib has immunomodulatory effects via the JAK-STAT pathway. Many of the inflammatory cytokines implicated in the pathogenesis of SLE signal via the JAK-STAT pathways. We will also investigate effects of tofacitinib on vascular function in SLE subjects and identify biomarkers that may be useful as endpoints in future studies.
  • 15-AR-0060 Role of PPAR-y Agonists in Immunomodulation and Vascular Prevention in SLE (PPAR-SLE). The purpose of this study is to assess the effects of a commonly used diabetes medication on lupus disease activity. Investigators are testing how this medication can improve blood vessel function and reduce inflammation in people with lupus. View the flyer for this protocol.
  • 94-AR-0066: Studies of the Pathogenesis and Natural History of Systemic Lupus Erythematosus (SLE). This study admits patients with systemic lupus erythematosus. The goal is to identify clinical subsets of patient that might aid in understanding progress and determining appropriate therapies. View the flyer for this protocol.
  • 03-E-0099: Pathogenic Studies in Families of Twins or Siblings Discordant for Systemic Rheumatic Diseases. Patients diagnosed with adult or juvenile systemic lupus erythematosus within the past four years and their healthy same gender-siblings are part of a study to evaluate environmental and genetic risk factors for systemic autoimmune diseases. When available, parents also enroll. The study involves patient questionnaires, blood testing, and a physician evaluation. Further clinical evaluation may be performed as indicated when enrolling at the NIH Clinical Center. Patients may enroll from the NIH Clinical Center in Bethesda or through their local physician’s office. (Contact: Adult patient referrals: Dr. Adam Schiffenbauer at schiffenbauera2@niehs.nih.gov); Pediatric patient referrals: Dr. Lisa Rider at riderl@mail.nih.gov)

Vasculitis

  • 14-AR-0200: Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis. Researchers want to study people's genes and follow people over time to see how the disease affects them. People age 5 and older who have or are thought to have vasculitis, or are related to someone with it, are eligible. Healthy volunteers are also eligible. View the flyer for this protocol.

Scientific Publications

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R. J Clin Invest. 2018 Jun 11. pii: 98814. doi: 10.1172/JCI98814. [Epub ahead of print] PMID: 29649002

Germline gain-of-function myeloid differentiation primary response gene-88 (MYD88) mutation in a child with severe arthritis. Sikora KA, Bennett JR, Vyncke L, Deng Z, Tsai WL, Pauwels E, Layh-Schmitt G, Brundidge A, Navid F, Zaal KJM, Hanson E, Gadina M, Staudt LM, Griffin TA, Tavernier J, Peelman F, Colbert RA. J Allergy Clin Immunol. 2018 May;141(5):1943-1947.e9. doi: 10.1016/j.jaci.2018.01.027. Epub 2018 Feb 7. No abstract available.  PMID: 29427642

Neutrophil subsets and their gene signature associate with vascular inflammation and coronary atherosclerosis in lupus. 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. JCI Insight. 2018 Apr 19;3(8). pii: 99276. doi: 10.1172/jci.insight.99276. [Epub ahead of print] PMID: 29669944

IL1RN Variation Influences both Disease Susceptibility and Response to Human Recombinant IL-1RA Therapy in Systemic Juvenile Idiopathic Arthritis.  Arthur VL, Shuldiner E, Remmers EF, Hinks A, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Oliveira S, Yeung RSM, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rösen-Wolff A, Minden K, Szymanski AM; INCHARGE Consortium, Thomson W, Kastner DL, Woo P, Ombrello MJ.  Arthritis Rheumatol. 2018 Apr 2. doi: 10.1002/art.40498. [Epub ahead of print] PMID: 29609200

18F-Fluorodeoxyglucose-Positron Emission Tomography As an Imaging Biomarker in a Prospective, Longitudinal Cohort of Patients With Large Vessel Vasculitis. Grayson PC, Alehashemi S, Bagheri AA, Civelek AC, Cupps TR, Kaplan MJ, Malayeri AA, Merkel PA, Novakovich E, Bluemke DA, Ahlman MA. Arthritis Rheumatol. 2018 Mar;70(3):439-449. doi: 10.1002/art.40379. Epub 2018 Feb 6. PMID: 29145713

Updated efficacy of avelumab in patients with previously treated metastatic Merkel cell carcinoma after ≥1 year of follow-up: JAVELIN Merkel 200, a phase 2 clinical trial. Kaufman HL, Russell JS, Hamid O, Bhatia S, Terheyden P, D'Angelo SP, Shih KC, Lebbé C, Milella M, Brownell I, Lewis KD, Lorch JH, von Heydebreck A, Hennessy M, Nghiem P. J Immunother Cancer. 2018 Jan 19;6(1):7. doi: 10.1186/s40425-017-0310-x. PMID: 29347993

STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells. Majri SS, Fritz JM, Villarino AV, Zheng L, Kanellopoulou C, Chaigne-Delalande B, Grönholm J, Niemela JE, Afzali B, Biancalana M, Pittaluga S, Sun A, Cohen JL, Holland SM, O'Shea JJ, Uzel G, Lenardo MJ.  J Immunol. 2018 Jan 1;200(1):110-118. doi: 10.4049/jimmunol.1701133. Epub 2017 Nov 29.  PMID: 29187589

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ. Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22. PMID: 28530713

Staphylococcus aureus and Staphylococcus epidermidis strain diversity underlying pediatric atopic dermatitis. Byrd AL, Deming C, Cassidy SKB, Harrison OJ, Ng WI, Conlan S; NISC Comparative Sequencing Program, Belkaid Y, Segre JA, Kong HH.  Sci Transl Med. 2017 Jul 5;9(397). pii: eaal4651. doi: 10.1126/scitranslmed.aal4651.  PMID: 28679656

Spatial distribution of syndesmophytes along the vertebral rim in ankylosing spondylitis: preferential involvement of the posterolateral rim. Tan S, Dasgupta A, Yao J, Flynn JA, Yao L, Ward MM. Ann Rheum Dis. 2016 Nov;75(11):1951-1957. doi: 10.1136/annrheumdis-2015-208802. Epub 2016 Jan 21. PMID: 26797721

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