Children and adults with clinically and genetically defined autoinflammatory diseases (AID) including CAPS, TRAPS and HIDS can receive expensive Interleukin-1 (IL-1) inhibitors in many countries around the world. However, patients suffering from unclassified autoinflammatory conditions characterised by recurrent fevers and organ dysfunction and the absence of a known pathogenic mutation commonly have no access to these treatment options. Objectives: The aim of this study was to explore the

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... acy and safety of colchicine treatment in children and adults with autoinflammatory diseases without pathogenic mutations. Methods: Consecutive children and adults with autoinflammatory diseases without pathogenic mutations treated with colchicine were included in this single centre study and observed for a median of 12,94 months (range 1,25-66,73). Clinical features, autoinflammatory disease activity indices (AIDAI), inflammatory markers ESR, CRP, SAA and S100, frequency and duration of flares and physician global assessment of disease activity (VAS) were recorded serially and compared at baseline and while receiving Colchicine therapy. Results: A total of 39 patients were included in the study. These were 16 girls and 23 boys, median age at start of colchicine therapy was 4 years (range 1-54). The diagnoses included PFAPA in 15, mutation-negative FMF in 11, autoinflammation with low-penetrance variants in nine (all NLRP3) and other unclassified AID in four patients. Recurrent fever was the leading symptom, mostly associated with arthralgia and myalgia. The mean disease activity decreased from 4.4 at baseline to 2.2 on colchicine. Mean SAA-levels decreased from 159 to 63.3 mg/L, CRP levels from 6.4 to 2.3 mg/dl. Flare frequency was reduced in 72% and remained unchanged in 28% of patients. Flare duration was reduced in 82%, unchanged in 14% and increased in only 4% of patients. Most common adverse events were abdominal pain and nausea in 50% of patients and appeared to be dose dependent. Conclusions: Children and adults with unclassified autoinflammatory diseases may benefit significantly for colchicine therapy. Control of clinical disease activity and improved inflammatory markers were documented in 59% of patients. Colchicine should be considered in patients with active inflammatory disease with no access to IL-1 inhibitors. Controlled trials are needed to further explore this approach.