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The VISION of the SVARD Committee is growth of individual SVARD workgroups: scientific progress in optimizing, understanding, care, and outcome in these diseases. 

The MISSION of the SVARD Committee is improve outcome for children with scleroderma, vasculitis, auto-inflammatory or other rare disease.  The diseases studied by the SVARD committee are too rare to be independent. Many are associated with major morbidity, some with mortality. All impact normal childhood quality of life and function. So, there is a need to improve the identification, management, and outcome of these diseases.


Suzanne Li, MD

Suzanne Li, MD SVARD Chair

Jay Mehta, MD
SVARD Vice Chair


SVARD Workgroups

ANCA associated vasculitis (AAV) working group is finalizing analysis of recently distributed CARRA survey. The survey so far demonstrates the limited experience of most members of CARRA with these diseases, highlighting the importance of developing and evaluating CTP to work towards identifying optimal therapy. The developed CTPs will include induction and maintenance protocols.

The group is also developing disease severity criteria to enable treatment stratification, and disease activity and damage measures.  More work will be needed to determine how to integrate CARRA based CTP study with establishment of new AAV CARRA registry versus integration with the existing ArChiVe registry which includes a biorepository component.

The autoimmune inflammatory encephalitis team has been working with neurology, radiology, pathology, psychiatry, and a parent group (AIE Alliance) to develop standards for diagnosis and evaluation to improve understanding and treatment of these patients.  They are evaluating the use of NIH criteria for PANS, AIE, versus overlap conditions, and generating data fields to add to the existing Brainworks registry. They are working on being able to collect biospecimens for future translational studies. Leaders of this group are Susa Benseler, Heather van Mater, and Eyal Muscal.

Chronic Non-bacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis (CNO/CRMO) work group has been moving forward with CTP development following the 2014 meeting. They are developing items needed for comparative effectiveness studies including clinical measures such as eligibility criteria and treatment response and failure criteria. They have been collaborating with radiologists to develop standards for conducting and interpreting whole-body MRI that they consider to be invaluable for monitoring outcome.  They will be developing three CTP arms:

  • Bisphosphonates alone
  • TNF alpha inhibitors alone
  • Non-biologic DMARDs alone.

They are also planning translational studies to identify biomarkers and improve understanding of the disease process. Leaders of this group are Dan Zhao, Polly Ferguson, and Fatma Dedeoglu.

The Kawasaki’s Disease group is focused on developing CTPs for salvage treatment of patients who fail to respond to the standard of care IVIG treatment. Towards this goal, they are working on a survey to be distributed to CARRA members to better understand current treatment strategies, and will be conducting a literature review of treatment strategies. The team is interested in developing a registry to capture all KD subjects, are keen to be able to collect biological specimens for translational studies as part of this registry. There is currently a North American registry of KD patients with cardiac abnormalities, but the KD working group would like a more inclusive registry. Leaders of this group are Rob Sundel, Rae Yeung, and Sri Grevitch.

Periodic Fever, Apthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) workgroup is focused on better understanding diagnosis, prognosis, and optimal treatment for PFAPA, and have partnered with infectious disease, are considering partnering with ENT, to improve assessment and management of patients. The group has been developing CTPs under the leadership of Gil Amarilyo, with arms for aborting episodes (prednisone, anakinra), and preventing episodes (cimetidine, colchicine).  They have been working on standardizing classification and developing eligibility criteria. A major goal is to further translational studies to understand the genetic etiology and develop biomarkers, with collaborations already established with Dan Kastner at NIH, and ENT colleagues for sample collection.  It will be important to include biorepository option for future PFAPA registries. Leaders of this group are Sivia Lapidus, Fatma Dedeoglu, and Kalpana Manthiram.

The Localized scleroderma (LS) group met in May to carry out initial review of data from their CTP pilot study, a time when nearly all the subjects had completed the initial 12 months of follow-up. The team evaluated several of their developed clinical measures. The majority of subjects was considered by their treating physician to have had a major or moderate improvement, and were found to fulfill the preliminary treatment response criteria. Modifications were made to improve performance of the treatment response and failure criteria.

Now that all of the 12 month data has been collected, analysis is proceeding on evaluating all the clinical measures, more fully evaluating response to each CTP, issues with conducting comparative effectiveness studies, and identifying potential confounders for treatment response.  Work is also progressing on finishing the preliminary morbidity measure, with recent effort directed at determining relative weight for scoring facial compared to musculoskeletal and other morbidity, and the group would like to pilot this next year. A grant application was submitted to Scleroderma Foundation to identify immunophenotype subsets in juvenile LS and SSc, which will evaluate the biological samples collected during the CTP pilot and additional samples. Leaders of this group are Suzanne Li and Cassie Torok.

The group working on Sjogren’s Syndrome is developing classification criteria for juvenile Sjogren’s syndrome. They have met with leaders of the recently developed adult ACR-EULAR classification criteria, and have organized an international collaboration to move forward on this project. They will use data from the legacy CARRA registry and potentially other data sources for their study. Once classification criteria are developed, they can move forward with developing CTPs and disease assessment tools. Leaders of this group are Scott Lieberman and Jay Mehta.

Systemic Sclerosis (SSc) WG is working on validating classification criteria for juvenile SSc; they have formed an international collaboration, and will be examining the preliminary PReS 2007 and ACR-EULAR adult 2013 criteria, with focus on identifying early jSSc. New items may need to be included, and a proposal was submitted to ACR-EULAR for carrying out this study. The group has also submitted a grant application to Scleroderma Foundation to identify immunophenotype subsets in juvenile SSc and LS. Different subgroups are working on developing assessment standards, including for specific organs, and identifying or developing patient outcome measures that best capture function, impact, and issues for jSSc patients. More discussions are needed on how to work towards identifying optimal therapy of these patients since disease features can be slow to manifest or change making it difficult to conduct studies within the usual 6-12 month timeframe. Leaders of this group are Anne Stevens, Megan Curran, and Brandi Stevens.


SVARD Projects

Developing Tools for Localized Scleroderma Comparative Effectiveness Studies

Principal Investigator: Suzanne Li, MD, PhD, Hackensack University Medical Center, Hackensack, NJ

Funding source: Arthritis Foundation

Overall goal: To improve the long-term outcome of juvenile localized scleroderma (jLS) by identifying effective evidence-based treatments

Objective: To advance our capacity to evaluate evidence-based therapies for juvenile localized scleroderma (jLS). To establish a jLS tissue bank repository to enable future translational studies.

The jLS CTP pilot study is being conducted at 10 CARRA centers and will monitor 50 active jLS patients during their first year of treatment with one of three methotrexate-based standardized treatment plans, with data entered into an existing web-based pediatric rheumatology registry (CARRAnet). This registry will enable long-term follow-up of these patients. Patients will be examined with recently developed clinical activity and damage measures to evaluate their validity and sensitivity to change. The reliability of scoring with these measures will be assessed in a workshop meeting. The sensitivity and specificity of developed treatment response criteria will be determined by comparing the criteria’s performance against physician rating of the patient’s response to treatment compared to baseline. We will evaluate the feasibility of conducting a treatment study by assessing enrollment and retention rates of study patients, and feasibility of using clinical measures and CARRAnet. These evaluations will enable us to identify and address any potential issues, and guide the design of future treatment studies. The study includes an optional biological sample  (blood) collection and banking for future LS translational studies.

The participating physicians and sites for this study are:
Dr. Suzanne Li, PI, Joseph M Sanzari Children’s Hospital, Hackensack University Medical Center, Hackensack, NJ
Drs. Mara Becker and Maria Ibarra, Children’s Mercy Hospital, Kansas City, MO
Drs. Robert Fuhlbrigge and Fatma Dedeoglu, Boston Children’s Hospital, Boston, MA
Dr. Gloria Higgins, Nationwide Children’s Hospital, Columbus, OH
Drs. Sandy Hong and Polly Ferguson, University of Iowa, Iowa City, IA
Drs. Ronald Laxer and Elena Pope, Hospital for Sick Children Toronto, Canada
Drs. Thomas Mason and Ann Reed, Mayo Clinic, Rochester, MN
Drs. Marilynn Punaro and Katie Stewart, Texas Scottish Rite Hospital, Dallas, TX
Dr. C Egla Rabinovich, Duke University, Durham, NC
Dr. Kathryn Torok, University of Pittsburgh, Pittsburgh, PA

Development of clinical disease activity measure for pediatric localized scleroderma

Principal Investigator: Suzanne Li, MD, PhD, Hackensack University Medical Center, Hackensack, NJ

  • Substudy: T-helper cell cytokine profile in localized scleroderma
    Principal Investigator: Kathryn Torok, MD, Children’s Hospital of Pittsburgh, Pittsburgh, PA

This study is currently recruiting patients.

Sponsors: CARRA, faculty funds

Condition: Localized scleroderma

Study Type: Prospective observational, multi-center study

Purpose: Localized scleroderma is the major form of scleroderma in the pediatric population and can cause severe morbidity for the growing child. Linear scleroderma, the most common juvenile localized scleroderma (jLS) subtype is associated with frequent limb undergrowth (32.6%), joint contractures (25.6-56%), and arthritis (12.8%), while linear scleroderma of the head is associated with facial atrophy, seizures, and ocular complications. Currently there are no established guidelines for treatment of jLS, and evaluation of treatment efficacy has been hampered by the rarity of the disease and lack of agreed upon standards for evaluating disease state.

LOCUS (Localized Scleroderma Clinical and Ultrasound Study group) is completing data collection on its first prospective multi-center cohort study of 100 jLS patients. The clinical arm of the study focused on determining the level of correlation between multiple clinical parameters and disease activity to work towards generating a sensitive, valid, and weighted clinical disease activity measure. The ultrasound arm focused on evaluating the validity and reliability of an ultrasound disease activity measure.

LOCUS is starting a second prospective multi-center clinical study, where an additional 50 to 100 jLS patients will have the same clinical evaluation conducted of one of their skin lesions. The aim of this second cohort is to serve as an independent data set to evaluate the validity of the clinical disease activity measure generated from the first cohort data. This second study has two optional substudies:

1. To identify T cell and cytokine differences between active and inactive LS (PI: K Torok, U Pittsburgh)

2. To identify HLA differences between different LS subgroups (PI: H Jacobe, UTSW)

These studies will allow the development and initial evaluation of clinical and ultrasound measures for localized scleroderma.  Having sensitive validated disease activity measures will better enable evaluation of treatment efficacy in comparative effectiveness and other clinical treatment trials.

Coordinating Center: Joseph M Sanzari Children’s Hospital, Hackensack University Medical Center, Hackensack, NJ

Participating CARRA Centers: Children’s Mercy Hospital, MO; Duke University Medical Center, NC; Hackensack University Medical Center, NJ;?Mayo Clinic, MN; Nationwide Children’s Hospital, OH; Stanford Children’s Hospital, CA; Texas Scottish Rite Children’s Hospital, TX; ?University of Pittsburgh, PA

Other participating sites: Cerrahpaþa Paediatric Rheumatology Clinic, TR; Hacettepe University, TR; Hamburger Zentrum für Kinder- und Jugendrheumatologie Klinikum Eilbek, DE

BrainWorks: Multicenter, prospective, observational cohort study of children with CNS vasculitis

Principal Investigator: Susanne Benseler, The Hospital for Sick Children, Toronto, ON

ARChiVe: A time-of-diagnosis registry for US/Canadian children with chronic primary systemic vasculitis…

ARChiVe: A time-of-diagnosis registry for US/Canadian children with chronic primary systemic vasculitis (including patients with granulomatosis with polyangiitis, microscopic polyangiitis, Churg Strauss syndrome, polyarteritis nodosa, Takayasu arteritis, and unclassified vasculitis)

Principal Investigator: David Cabral, British Columbia Children’s Hospital, Vancouver, BC

A pilot project towards establishment of a US/Canadian registry of children with Wegner’s granulomatosis

Principal Investigator: David Cabral, MD, British Columbia Children’s Hospital, Vancouver, BC

The ARCHIVE (A Registry for Children with Vasculitis: e-entry) is a project towards establishing a safe, private computerized database of Canadian and American children with Wegener’s granulomatosis and related vasculitides. The main objectives of the ARCHIVE are to determine:

  • The disease manifestations in children at the time of diagnosis and the duration of symptoms prior to diagnosis compared to historical data of adults with these diseases.
  • The validity of classification criteria derived from adults with vasculitis compared to newly proposed pediatric specific criteria.
  • Initial treatments used by pediatric rheumatologists caring for children with these diseases.

Completed Project: Rilonacept for treatment of familial mediterranean fever (FMF)

Principal Investigator: Philip J Hashkes, MD, MSc, Cleveland Clinic Foundation, Cleveland, OH