Rare Disease

Suzanne Li, MD, PhD
Jay Mehta, MD, MS
The Children’s Hospital of Philadelphia
Vice Chair
Eve Wu, MD
Eve Wu, MD
UNC Health - North Carolina Children's Hospital

Committee Description/Overview

The rare disease committee aims to improve understanding about the pathophysiology, diagnosis, management, and outcomes of children with rare autoimmune and autoinflammatory diseases, including scleroderma, vasculitis, autoimmune encephalitis, autoinflammatory diseases, Sjögrens, and immunodeficiency related rheumatic diseases.


Autoimmune Encephalitis
Autoimmune immunodeficiency monogenic diseases
ANCA Associated Vasculitis
Chronic non-bacterial osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Kawasaki Disease
Periodic Fever, Apthous stomatitis, Pharyngitis, Adenitis
Localized Scleroderma
Sjögren Syndrome
Systemic Sclerosis


To join one or more of these workgroups or to receive updates on the work of this committee, please update your profile using the link below. You will be added to the committee listserv and any workgroup specific listservs that you have signed up for.

Additional Current Content

ANCA Associated Vasculitis

Recent highlights:
The AAV group has been finalizing the details of the consensus treatment plans. We have developed a survey on the CTP arms and proposed assessments that we are planning to send out before the CARRA meeting. Please complete our survey as we need to get an > 80% response rate to know that we are representing the CARRA community! A draft of the AAV CTP manuscript will be included with the survey to provide you with more information on the rationale for these CTP arms.

The AAV group would like parent involvement in the workgroup and encourage parent feedback on the developed CTPs and assessments.

Autoimmunity, Immunodeficiency and Monogenic Syndromes

Recent highlights:
The AIMS group has been active in establishing a new study, “Rituximab Therapy in Children with Autoimmune Diseases (Rituximab CARRA Registry).” Pediatric rheumatologists have increasingly prescribed rituximab for children with systemic autoimmune diseases. Immunological risks of rituximab therapy including secondary hypogammaglobulinemia, neutropenia, and severe infections have been documented in adult studies. The potential risks have not been studied in children.

The AIMS group is finalizing a proposal to:

  • Identify the incidence of hypogammaglobinemia, neutropenia, and severe infections in children with systemic autoimmune diseases after one year of rituximab therapy
  • Study the potential risk factors of hypogammaglobinemia, neutropenia in children with systemic autoimmune disorders after one year of rituximab therapy
  • Study the patterns of pediatric rheumatology practice in North American with RTX therapy including monitoring immunoglobulin levels (when to monitor), monitoring specific pneumococcal antibodies, giving IgG replacement therapy (when to start, when to stop), giving a booster Pneumovax.

The data will be collected from participating sites using a developed REDCAP data collection form. CARRA and non-CARRA members, who are interested and have experienced in using Rituximab in children with autoimmune diseases, are invited to participate.

Chronic Recurrent Multifocal Osteomyelitis

Recent Highlights:

  • Our group has submitted a proposal to ACR/EULAR to develop and validate classification criteria of CNO/CRMO. Under the guidance of methodology expert, Ray Naden, our group finalized our case report forms and started retrospective data collection since January 2019. We aim to collect 500 CNO cases and 500 CNO mimicker cases worldwide.
  • Our prospective longitudinal patient registry (CHOIR) based on our CTP has rolled out. REDCap database is currently being tested and our future goals are to enroll up to 2,000 subjects worldwide with at least 5 years follow up.

Kawasaki Disease

The KD group would like to recruit engaged CARRA member(s) to help co-lead KD sub-group! KD is fascinating and relatively common disease. Although there are guidelines for treatment of this disease, there is definitely no consensus on best treatment and a strong need for pediatric rheumatologists to help determine optimal care!  A classic set-up for CTPs development.

Recent Highlights:
The KD group has submitted the CTP project pre-approval request. Next, we plan to initialize regular teleconference calls to finalize the development of a survey for the CARRA members and other stakeholders (e.g. – pediatric infectious disease physicians).

Localized Scleroderma

Recent Highlights:

  1. SCORE IRB approval finished! SCORE study will be starting! This study will enable jLS patients to again be enrolled into the CARRA Registry.  For jLS, we are focused on enrolling active patients – new disease or relapse.
  2. Pediatric scleroderma family day conference, Kids Get Scleroderma Too, was held 10/26-27 in Denver, CO. The Tristate and CO chapters of the Scleroderma Foundation supported this event, with program development involving Katie Moore, Cassie Torok, Anne Stevens, Suzanne Li, Vidya Sivaraman, and Megan Curran. There were separate sessions for the patients and parents, with families enjoying the opportunity to meet others with similar issues/concerns, and to learn more about pediatric scleroderma, management, and research.
  3. Small CARRA grant awarded: A Prospective Observational Study Comparing the Non-inferiority of Mycophenolate Mofetil (MMF) to Methotrexate for the Treatment of jLS; PI: Dawn Wahezi; Natalia Vasquez-Canizares and Suzanne Li, co-Is.
    1. Natalia is a fellow who led the effort to put this study together.
    2. This study is intended to be a SCORE substudy that will compare safety and efficacy of MMF- vs MTX-based CTPs in jLS patients initiating treatment
  4. Publication: New Features for Measuring Disease Activity in Juvenile Localized Scleroderma J Rheumatology 2018; 45:1680-88. Li SC, Li X, Pope E, Stewart K, Higgins GC, Rabinovich CE, O’Neil KM, Haines KA, Laxer RM, Punaro M, Jacobe H, Wittkowski K, Nyirenda T, Foeldvari I, Torok KS.
    1. This was a prospective study by an LS subgrouop (LOCUS) that identified features associated with active disease, and their relative importance for predicting activity.

Systemic Sclerosis

Recent Highlights:

  1. SCORE IRB approval finished, and SCORE study will be starting! jSSc patients can again be enrolled into the CARRA Registry!
  2. Publication: Clinical Characteristics and Factors Associated With Disability and Impaired Quality of Life in Children with Juvenile Systemic Sclerosis: Results From the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. Arthritis Care Res, 70: 1806-1813. Stevens, B. E., Torok, K. S., Li, S. C., Hershey, N. , Curran, M. , Higgins, G. C., Moore, K. F., Egla Rabinovich, C. , Dodson, S., Stevens, A. M., et al.
    1. This study examined disease and quality of life manifestations of the jSSc CARRA Legacy cohort, comparing some features to other disease cohorts in the registry.
  3. Pediatric scleroderma family day conference, Kids Get Scleroderma Too, was held 10/26-27 in Denver, CO. Please see description in LS section.
  4. Juvenile Systemic Scleroderma 3rd Consensus Meeting in Hamburg, Germany December 6 2018
    1. International multi-disciplinary meeting organized by Ivan Foeldvari. Several adult SSc experts also participated, providing guidance and sharing adult SSc data.
    2. Aim: develop proposed outcome measures to be used in a 12-month open label drug trial in juvenile systemic sclerosis.
    3. CARRA members that attended: Michael Blakley, Megan Curran, Suzanne Li, Anne Stevens, Brandi Stevens, Cassie Torok. SVARD funds provided travel support for the SSc group’s leaders to attend (Cassie Torok, Suzanne Li, Anne Stevens).


Recent Highlights:
An abstract was accepted for the ISSAID Meeting regarding initiation of an autoinflammatory network. The aim of the project is to determine the value of a CARRA Autoinflammatory Disease network. The team reached consensus by nominal group technique and agreed that development of a CARRA Autoinflammatory Disease Network will be instrumental for providing quality care for children affected by AIDs and their families. The network will provide improvements in areas of clinical care, increased research, patient and family access to accurate and useful disease-related education, and facilitation of international collaborations.

Sjögren’s Disease

Recent Highlights:

  • We collected 144 cases of childhood Sjögren Syndrome from six countries and described the largest cohort or presenting symptoms for the disease. We also learned that recurrent or persistent parotitis is significantly associated with younger age among children with Sjögren Syndrome. Almost 100% patients under 7 years of age presented with parotid inflammation compared to only a quarter of older teenagers.  Only 27% of children diagnosed with Sjögren syndrome met ACR/EULAR classification.
  • Publication: Basiaga M, Stern S, Mehta J, Lieberman S. A Better Understanding of Childhood Sjögren Syndrome: Evaluation of the 2016 ACR/EULAR Classification Criteria for Use in Diagnosing Sjögren Syndrome in Children.