Demographic and disease characteristics at baseline
| FCAS (n=42) | MWS (n=169) | NOMID (n=32) | All CAPS (n=243) | Other* (n=42) | All (N=285) | |
| Age <4 years, n (%) | 1 (2.4) | 6 (3.6) | 0 | 7 (2.9) | 2 (4.8) | 9 (3.2) |
| Age 4–<12 years, n (%) | 7 (16.7) | 25 (14.8) | 11 (34.4) | 43 (17.7) | 10 (23.8) | 53 (18.6) |
| Age 12–<18 years, n (%) | 3 (7.1) | 25 (14.8) | 7 (21.9) | 35 (14.4) | 10 (23.8) | 45 (15.8) |
| Age of paediatric patients, median (Q1–Q3), years | 9.1 (5.8–14.3) | 11.5 (6.2–14.2) | 8.2 (6.2–15.0) | 11.1 (6.2–14.3) | 10.4 (7.3–13.4) | 10.8 (6.2–14.3) |
| Age ≥18 years, n (%) | 31 (73.8) | 113 (66.9) | 14 (43.8) | 158 (65.0) | 20 (47.6) | 178 (62.5) |
| Age of adult patients, median (Q1–Q3), years | 43.9 (31.9–60.7) | 42.9 (33.1–50.8) | 24.1 (20.2–41.0) | 42.6 (28.9–51.6) | 51.7 (25.3–57.2) | 42.8 (28.6–53.4) |
| Female, n (%) | 28 (66.7) | 82 (48.5) | 17 (53.1) | 127 (52.3) | 26 (61.9) | 153 (53.7) |
| Caucasian, n (%) | 27 (64.3) | 132 (78.1) | 25 (78.1) | 184 (75.7) | 24 (57.1) | 208 (73.0) |
| NLRP3 mutation positive, n (%) | 39 (92.9) | 158 (93.5) | 30 (93.8) | 227 (93.4) | 10 (23.8) | 237 (83.2) |
| Estimated duration of disease, median (Q1–Q3), years | 28.5 (8–50) | 17.5 (8–40) | 14.0 (6–20) | 18.0 (8–40) | 14.5 (9.5–33) | 18.0 (8–40) |
| History | ||||||
| Sensorineural hearing loss, n (%) | 3 (7.1) | 96 (56.8) | 20 (62.5) | 119 (49.0) | 7 (16.7) | 126 (44.2) |
| Vertigo, n (%) | 0.0 | 6 (3.6) | 3 (9.4) | 9 (3.7) | 3 (7.1) | 12 (4.2) |
| Audiogram, abnormal, n (%) | 18 (42.9) | 52 (30.8) | 7 (21.9) | 77 (31.7) | 2 (4.8) | 79 (27.7) |
| Uveitis, n (%) | 3 (7.1) | 16 (9.5) | 11 (34.4) | 30 (12.3) | 4 (9.5) | 34 (11.9) |
| Papillitis/papilloedema, n (%) | 0.0 | 14 (8.3) | 18 (56.3) | 32 (13.2) | 1 (2.4) | 33 (11.6) |
| Meningitis, n (%) | 2 (4.8) | 10 (5.9) | 15 (46.9) | 27 (11.1) | 1 (2.4) | 28 (9.8) |
| Daily headaches, n (%) | 3 (7.1) | 27 (16.0) | 19 (59.4) | 49 (20.2) | 5 (11.9) | 54 (18.9) |
| Laboratory | ||||||
| CRP, median mg/L (Q1–Q3) | 1.5 (1.0–8.0) | 4.2 (1.0–9.0) | 5.4 (2.0–13.0) | 4.0 (1.0–9.4) | 6.0 (1.0–13.0) | 4.9 (1.0–10.0) |
| CRP >5 mg/L, n (%) | 11 (26.2) | 48 (28.4) | 15 (46.9) | 74 (30.5) | 19 (45.2) | 93 (32.6) |
| SAA, median mg/L (Q1–Q3) | 3.0 (2.0–37.0) | 7.0 (3.0–22.0) | 12.0 (5.0–77.0) | 6.0 (3.0–34.0) | 5.0 (3.5–6.5) | 6.0 (3.0–23.0) |
| SAA >10 mg/L, n (%) | 6 (14.3) | 50 (29.6) | 12 (37.5) | 68 (28.0) | 3 (7.1) | 71 (24.9) |
| Creatinine elevation†, n (%) | 3 (7.1) | 14 (8.3) | 4 (12.5) | 21 (8.6) | 2 (4.8) | 23 (8.1) |
| Proteinuria by dipstick†, n (%) | 2 (4.8) | 10 (5.9) | 2 (6.3) | 14 (5.8) | 2 (4.8) | 16 (5.6) |
| Abnormal CSF†, n (%) | 0.0 | 7 (4.1) | 11 (34.4) | 18 (7.4) | 1 (2.4) | 19 (6.7) |
*Other includes atypical CAPS (patients with a confirmed NLRP3 mutation and an atypical clinical presentation or patients with typical CAPS symptoms but without confirmed pathogenic mutations in NLRP3; n=18) and non-CAPS diagnoses (n=24); non-CAPS diagnoses include systemic juvenile idiopathic arthritis (n=8), unspecified autoinflammatory syndromes (n=5), familial Mediterranean fever (n=3), mevalonate kinase deficiency (n=2), adult-onset Still’s disease (n=2), tumour necrosis factor receptor-associated periodic syndrome (n=1), Erdheim-Chester disease (n=1), Blau syndrome (n=1) and granulomatosis with polyangiitis (n=1).
†Creatinine levels, proteinuria and CSF abnormalities assessed by the investigator as clinically significant.
CAPS, cryopyrin-associated periodic syndrome; CRP, C reactive protein; CSF, cerebrospinal fluid; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle-Wells syndrome; NLRP3, nucleotide-binding oligomerisation domain (NOD)-like receptor family, pyrin domain containing 3 gene; NOMID, neonatal-onset multisystem inflammatory disease; SAA, serum amyloid A.