For NOMID | Case Study

Patient insight: Quinn

Treated with Kineret® (anakinra) since 2009.

“In Quinn’s case, within a matter of hours, the rash was gone. The pain, the discomfort, the irritability, everything about Quinn that had been for that whole year was gone.” —Colleen P., Quinn’s mother

This case represents one patient’s experience. Individual results may vary.

Patient age at first visit: 6 months

Patient age at diagnosis, initiation of Kineret treatment: 12 months

Relevant history/physical exam

  • Persistent urticaria-like rash
  • Recurrent high fevers
  • Failure to thrive (5th percentile for weight)
  • Mild facial dysmorphia (frontal bossing, saddle nose)
  • Mild developmental motor delays

Evaluation

Relevant lab tests during evaluation period

CRP: Ranged from 27 to 305 mg/L (Normal <5 mg/L)1

WBC: Ranged from 27.7 to 44.4 x 109/L (Normal range 4 to 11 x 109/L)1

Genetic testing: Negative for mutations in NLRP3/CIAS1 gene

Treating physician’s approach to evaluating Quinn

1. Rule out infection and malignancy

  • Referrals to infectious disease specialists and oncologists
  • Extensive testing included lumbar punctures, colonoscopy, and bone marrow and skin biopsies

2. Consider autoinflammatory symptoms

  • Based on Quinn’s age and the severity of her symptoms, neonatal onset multisystem inflammatory disease (NOMID) was a strong possibility

Diagnosis

Treating physician suspected NOMID and decided to try Kineret

  • Quinn had many of the symptoms associated with NOMID
    • Other common symptoms (eg, hearing loss and conjunctivitis) were not present
  • Quinn tested negative for NLRP3/CIAS1 mutation (mutation is absent in ~40% of cases)2
  • 2016 clinical diagnostic criteria for CAPS do not “mandate evidence of a disease-causing NLRP3 mutation”3

Results with Kineret treatment

Quinn’s response to Kineret confirmed treating physician’s suspected diagnosis of NOMID

  • CRP levels dropped from 300 mg/L to 3 mg/L overnight
    • Rash and irritability/pain also improved

Quinn has been taking Kineret since 2009

  • Kineret keeps Quinn’s NOMID symptoms under control
  • Infections and stress still cause periodic flares
    • Headache, fever, and fatigue are the primary symptoms
    • Quinn periodically takes acetaminophen during flares
  • Quinn is an active child who continues to meet age-appropriate developmental and growth milestones
    • Quinn started to self-inject at 8 years old
See the Data
age NOTES
  • Birth
    • Born prematurely (34 weeks gestation)
    • Rash
    • Fever
    • Continued symptoms and
      failure to thrive
    • Consultations with multiple
      specialists
  • 6 months
    • Initial visit with treating physician
    • Treating physician evaluations
    • Included referrals to
      more specialists
  • 12 months
    • Hospitalized for aseptic meningitis
    • NOMID diagnosed
    • Kineret treatment began
  • 8 years
    • Started self-injecting Kineret
  • 11 years
    • Continues Kineret treatment