An ongoing challenge arises from the rarity of these diseases, which poses barriers in performing trials. Although numbers of trials in these diseases have increased over the past fifteen years, the research evidence base for current recommendations is still quite limited. Dr. Lapidus suggested, “We should consider basket clinical trials and organizing diseases based on mechanism. This will lead to larger groups within rare diseases that we can actually study.”
For more insights and updates on SAIDs, including talks by Fatma Dedeoglu, MD, of Boston’s Children’s Hospital and Erkan Demirkaya, MD, of the University of Western Ontario, Canada, review the full Convergence scientific session: Comprehensive Care for Systemic Autoinflammatory Diseases.
Ruth Jessen Hickman, MD, is a graduate of the Indiana University School of Medicine. She is a freelance medical and science writer living in Bloomington, Ind.
References
- Broderick L, Hoffman HM. IL-1 and autoinflammatory disease: Biology, pathogenesis and therapeutic targeting. Nat Rev Rheumatol. 2022;18(8):448–463.
- Soriano A, Soriano M, Espinosa G, et al. Current therapeutic options for the main monogenic autoinflammatory diseases and PFAPA Syndrome: Evidence-based approach and proposal of a practical guide. Front Immunol. 2020;11:865.
- Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644–651.
- Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: Cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Ann Rheum Dis. 2022;81(7):907–921.
- Polat A, Acikel C, Sozeri B, et al. Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever—a randomized controlled noninferiority trial. Arthritis Res Ther. 2016;18:85.
- Amarilyo G, Rothman D, Manthiram K, et al. Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): A framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group. Pediatr Rheumatol Online J. 2020;18(1):31.