Background/Purpose: Patients (pts) with NOMID have systemic inflammation and organ damage such as sensorineural hearing loss, hydrocephalus, optic nerve atrophy and growth plate defects. IL-1 blocking agents are approved for the treatment of NOMID^1,2. This study is reporting the long-term health and socioeconomic outcomes in NOMID patients on treatment.

Methods: We followed 41 NOMID patients (Female n=24, White n=27), median age 21 years (range 9-57) who were treated with IL-1 blockade (anakinra n=35, canakinumab n=6) for the median of 15 years (range 7-18). All were enrolled in an IRB-approved natural history protocol. Disease remission, organ damage, incidence of medical and psychological diagnoses and socioeconomic status were evaluated.

Results: Sustained remission and normalization of inflammatory markers was achieved in 38 pts (93%) with continued dose adjustment for weight and temporary dose increase during stress. 1 patient is non-compliant, 1 has recurrent uveitis and 1 has aseptic meningitis. 23 pts required at least 5 mg/kg of anakinra (or equivalent canakinumab) to achieve remission (56%). In 11 pts anakinra was switched to canakinumab, 6 switched back to anakinra because of worsened headache (55%)². Bone age and mineral density normalized in all children on treatment. 20 pts (49%) have moderate to severe hearing loss, from those 16 use hearing aids, 2 have cochlear implants. 7 pts (17%) are legally blind and 5 (12%) are wheelchair bound . All but 2 pts attended school, 14 out of the remaining 39 (36%) required individualized education plans; speech therapy is the most common service received. 10 pts (24%) have neurocognitive delay, 8 (20%) have anxiety or mood disorders and 1 has schizophrenia. 16 out of 22 adults (72%) hold a high school diploma or college degree. 10 (45%) are either full time students or have a job. 10 pts (24%) are obese, 8 (20%) have hypertension, dyslipidemia or both. 12 pts (30%) developed skin abscess, cellulitis, or pustular acne on treatment. A 57 years old man developed a Hurtle cell thyroid dysplasia, a 44 years old woman was diagnosed with EBV negative large diffuse B-cell lymphoma of the liver and completed chemotherapy.

Conclusion: IL-1 inhibition provides sustained efficacy in the treatment of NOMID with the requirement for dose adjustment based on weight and intermittent dose escalation during stress or infections. Hearing loss is the leading cause of disability. Most can walk without assistive devices but challenges with mobility are not uncommon.  Skin infections are common on treatment. Headache with or without low grade CSF leukocytosis was the most common reason for switching from canakinumab to anakinra. Anakinra allowed normalization of growth and bone health, but obesity and hypertension in adults were similar to reports in the general population. No obvious malignancy signals were detected; however, long term follow-up in a larger cohort of the entire CAPS spectrum are needed to estimate the effect on the development of hematologic and solid malignancies. 

Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health.

¹Sibley et al. Arthritis Rheum 2012

² Sibley et al. Ann Rheum Dis. 2015

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/health-and-socioeconomic-outcomes-in-a-neonatal-onset-multisystem-inflammatory-disease-nomid-cohort-followed-for-a-median-of-fifteen-years/