Standardizing Care and Fostering Systemic Autoinflammatory Disease (SAID) Research Through the CARRA Autoinflammatory Disease Network

Grant Schulert¹, Julie Cherian ², Theresa Wampler Muskardin ³, Marinka Twilt ⁴, Shoghik Akoghlanian ⁵, Gil Amarilyo ⁶, Dilan Dissanayake ⁷, Karen Durrant ⁸, Polly Ferguson ⁹, Maria Gutierrez ¹⁰, Liora Harel ¹¹, Jonathan Hausmann ¹², Merav Heshin Bekenstein ¹³, Ronald Laxer ⁷, Aleksander Lenert ⁹, Suzanne Li ¹⁴, Greg Licameli ¹⁵, Geraldina Lionetti ¹⁶, Ian Michelow ¹⁷, Lakshmi Moorthy ¹⁸, Evan Propst ¹⁹, Vivian Saper ²⁰, Hemalatha Srinivasalu ²¹, Yuriy Stepanovskiy ²², Akaluck Thatayatikom ²³, Lori Tucker ²⁴, Peter Wright ²⁵, Cagri Yildirim-Toruner ⁵, Fatma Dedeoglu ¹⁵ and Sivia Lapidus ²⁶ for the CARRA investigators, ¹Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, ²Stony Brook Children's Hospital, Stony Brook, ³Colton Center for Autoimmunity, NYU School of Medicine, New York, ⁴Alberta Children's Hospital, Calgary, Canada, ⁵Nationwide Children's Hospital, Columbus, ⁶Schneider Hospital, Tel Aviv University, Kibbutz Magal, Israel, ⁷The Hospital for Sick Children and University of Toronto, Toronto, Canada, ⁸Kaiser Permanente San Francisco Medical Center and Autoinflammatory Alliance, San Francisco, ⁹University of Iowa Carver College of Medicine, Iowa City, ¹⁰Johns Hopkins University School of Medicine, Baltimore, ¹¹Schneider Hospital, Tel Aviv University, Petah-Tiqva, Israel, ¹²Division of Immunology, Boston Children's Hospital; Rheumatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, ¹³Dana Children’s Hospital of Tel Aviv Medical Center, Binyamina, Israel, ¹⁴Joseph M. Sanzari Children's Hospital Hackensack Meridian Health, Hackensack, ¹⁵Boston Children's Hospital, Boston, ¹⁶UCSF Benioff Children’s Hospital, Oakland, ¹⁷Alpert Medical School, Brown University, Providence, ¹⁸Rutgers Robert Wood Johnson Medical School, Metuchen, ¹⁹The Hospital for Sick Children, University of Toronto, Toronto, Canada, ²⁰Stanford University, Los Altos, ²¹Children's National Medical Center, Washington, ²²Shupyk National Medical Academy of Postgraduate Education, Kiev, ²³University of Florida, Gainesville, ²⁴BC Children's Hospital, Vancouver, British Columbia, Canada, ²⁵Dartmouth-Hitchcock Medical Center, Lebanon, ²⁶The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Maplewood

Meeting: 2020 Pediatric Rheumatology Symposium

Keywords: Autoinflammation, Autoinflammatory Disease, Familial Mediterranean fever, registry

Session Information

The 2020 Pediatric Rheumatology Symposium, originally scheduled for April 29 – May 2, was postponed due to COVID-19; therefore, abstracts were not presented as scheduled.

Date: Friday, May 1, 2020

Title: Poster Session 2

Session Type: ACR Abstract Session

Session Time: 5:00PM-6:00PM

Background/Purpose: International registries have significantly enhanced the understanding of the genetics, phenotype, prognosis, and treatment of Systemic Autoinflammatory Diseases (SAIDs) that could be further augmented by including a genetically heterogeneous Northern American cohort. The objective is to explore the need for and value of developing a Childhood Arthritis and Rheumatology Research Alliance (CARRA) Autoinflammatory Disease Network to enhance quality of care and accelerate research in SAIDs.

Methods: A team within CARRA composed of pediatric rheumatologists, infectious disease physicians, immunologists, otolaryngologists, geneticists, parents/patients, and members of the Autoinflammatory Alliance met in person and via teleconferences to discuss the benefits of SAIDs networks from 2016 to the present. A literature search on the topic using keywords such as “EuroFever”, “pharmacosurveillance”, and “autoinflammatory registry” was reviewed to identify stakeholders and methods for establishing clinics. Physicians who were involved in establishing SAIDs programs shared their experiences. To explore the feasibility of and need for this network, 17 physicians from different sites approximated total patient numbers seen in their programs, as determined by ICD-10 codes when available.

Results: The workgroup participants agreed by consensus that a CARRA Autoinflammatory Disease Network would be instrumental to improve clinical care, enhance research, facilitate international collaboration, and improve patient and family involvement in research planning. The literature search highlighted the benefits of this approach in rare diseases in preventing diagnostic delay, understanding the epigenetics of SAIDs, and providing an opportunity for pharmacosurveillance in a cohort of patients exposed to biologics in a real world setting. Data was collected from 17 sites in the US, Canada, Israel, and Ukraine, to assess the number of potential patients this network could reach. Collectively these sites (~10% of CARRA sites) care for 2493 SAID patients, including 1029 coded with periodic fever syndromes, 81 with CAPS, 786 with other defined SAIDs (including PFAPA), 160 with undefined SAIDs, and 437 with CNO/CRMO. We found significant variability in how ICD-10 codes were utilized among this small survey of US centers. ICD-10 codes were not necessarily in concordance with the physicians’ diagnosis, and across the majority of sites (82%), most visits were coded as periodic fever syndrome (M04.1).

Conclusion: CARRA physicians manage thousands of patients in North America with SAIDs, which emphasizes the need for a CARRA Autoinflammatory Disease Network to facilitate earlier diagnoses, education, and access to expert and multidisciplinary quality care. This network will also create an infrastructure for clinical and translational research. Future work will focus on more precisely characterizing the patients seen across CARRA Registry sites. Given the genetically diverse populations in North America, an autoinflammatory network built around the CARRA Registry would facilitate collaborations with international colleagues to benefit patients worldwide.

Table 1

Disclosure: G. Schulert, Novartis, 1, SOBI, 1; J. Cherian, None; T. Wampler Muskardin, None; M. Twilt, None; S. Akoghlanian, None; G. Amarilyo, None; D. Dissanayake, None; K. Durrant, None; P. Ferguson, None; M. Gutierrez, None; L. Harel, None; J. Hausmann, Novartis, 1; M. Heshin Bekenstein, None; R. Laxer, None; A. Lenert, None; S. Li, Merck, 1, 2; G. Licameli, None; G. Lionetti, None; I. Michelow, None; L. Moorthy, None; E. Propst, None; V. Saper, None; H. Srinivasalu, None; Y. Stepanovskiy, None; A. Thatayatikom, None; L. Tucker, None; P. Wright, None; C. Yildirim-Toruner, None; F. Dedeoglu, Novartis, 1, UptoDate, 1; S. Lapidus, None.

To cite this abstract in AMA style:

Schulert G, Cherian J, Wampler Muskardin T, Twilt M, Akoghlanian S, Amarilyo G, Dissanayake D, Durrant K, Ferguson P, Gutierrez M, Harel L, Hausmann J, Heshin Bekenstein M, Laxer R, Lenert A, Li S, Licameli G, Lionetti G, Michelow I, Moorthy L, Propst E, Saper V, Srinivasalu H, Stepanovskiy Y, Thatayatikom A, Tucker L, Wright P, Yildirim-Toruner C, Dedeoglu F, Lapidus S. Standardizing Care and Fostering Systemic Autoinflammatory Disease (SAID) Research Through the CARRA Autoinflammatory Disease Network [abstract]. Arthritis Rheumatol. 2020; 72 (suppl 4). https://acrabstracts.org/abstract/standardizing-care-and-fostering-systemic-autoinflammatory-disease-said-research-through-the-carra-autoinflammatory-disease-network/. Accessed .

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