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Genetic Diagnosis for Previously Undiagnosed Disorders
The NEJM has reported the NIH's Undiagnosed Diseases Network (UDN) study results of genetically identifying new diseases from prospectively followed persons with undiagnosed disorders.
The UDN was formed in 2014 as a network of seven clinical sites, two sequencing cores, a coordinating center, central biorepository, a metabolomics core, and a model organisms screening center. It was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases.
IL-6 for Adult Still's: A New Option?
Some clinical benefits were seen among patients with adult-onset Still's disease treated with tocilizumab (Actemra) in a small clinical trial, but the study's primary endpoint was not met, Japanese researchers reported.
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Long-Term Efficacy of Canakinumab in Systemic Juvenile Idiopathic Arthritis
Only inhibitors of IL-1 (canakinumab) and IL-6 (tocilizumab) are FDA approved for use in children with systemic onset juvenile idiopathic arthritis (sJIA). Now, long-term data from the extension studies from two phase III studies shows that canakinumab yields long-term improvements with reduced glucocorticoid dosing with no new safety findings with long-term use.
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Treatment Preferences in Still’s Disease
In July 2018, RheumNow launched a “Live Vote” survey of US and non-US rheumatologists that asked how they diagnose and treat systemic juvenile idiopathic arthritis (sJIA), also known as “Still’s disease”. It appears that many prefer to start therapy with an IL-1 inhibitor, after a course of steroids and MTX/DMARD. Yet, these findings suggest there are significant unmet needs in the diagnosis and management of sJIA patients.
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JAK Inhibition in Autoinflammatory Syndromes Interferonopathies
While many autoinflammatory syndromes are driven and managed with select inhibition of IL-1, IL-18 or IL-6, a subset are driven by type I interferon and are referred to as interferonopathies. These monogenic IFN–mediated disorders present in infancy with fevers, systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality.
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Autoinflammatory Syndromes Show Dramatic Response to Canakinumab
The New England Journal of Medicine reports that the anti-interleukin (IL)-1β monoclonal antibody canakinumab (Ilaris) was effective in the treatment of three distinct autoinflammatory recurrent fever syndromes (FMF, TRAPS, HIDS) with responses that were far superior to what was see
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Genetic Breakthrough in Systemic JIA
The identification of a genetic susceptibility locus for systemic juvenile idiopathic arthritis (sJIA) has important implications for treatment of this severe, poorly understood illness, researchers reported.
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Kineret Approved for Still's Disease in EU
SOBI has announced that Kineret (anakinra) has been approved by the European Commission (EC) for the treatment of Still’s disease (Systemic Juvenile Idiopathic Arthritis [SJIA] and Adult-Onset Still’s Disease [AOSD]), in all 28 European Union (EU) member states.
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IL-6 Inhibition Most Effective in Polycyclic Systemic JIA
The German Autoinflammatory Disease (AID) registry has studied the effects of the IL-6 inhibitor tocilizumab (TCZ) in systemic juvenile idiopathic arthritis (sJIA) patients and shown a clinical response rate of 35% during the first 12 weeks, and inactive disease and/or remission (with medication)
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IL-18 Binding Protein Effective in Adult-Onset Still's Disease
Gabay and colleagues have reported the results of a novel new recombinant human IL-18 binding protein, tadekinig alfa, demonstrating its effectiveness in an open-label dose escalating study in patients with adult-onset Still's disease (AOSD).
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IL-1 and IL-6 Inhibition Preferred in Systemic JIA
Since 2000, the German Biologics register (BiKeR) has prospectively enrolled children with juvenile idiopathic arthritis to assess outcomes with biologic therapies. A new report evaluates the efficacy and safety of etanercept (ETA), tocilizumab (TOC) and the interleukin-1 inhibitors (anakin
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Why TNF Inhibitors May Work in Some Autoinflammatory Patients
The NLRP3 inflammasome is a critical component of the innate immune system and activation of NLRP3 inflammasome results in caspase-1–dependent secretion of the proinflammatory cytokines IL-1β and IL-18.
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Biologic Use in Adult-Onset Still's Disease
Adult-onset Still's disease (AOSD) is the adult continum of systemic-onset juvenile idiopathic arthritis (SoJIA). Treatment of this febrile polyarticular systemic disorder can be complex, but has been relieved by several specific biologic therapies.
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NLRP3 Activation in Still's Disease
Adult-onset Still disease (AOSD) is usually regarded as an autoinflammatory disease, largely because of its symptomatology and responsiveness to IL-1 inhibition.
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New Criteria for the Cryopyrinopathies (CAPS)
The diagnosis of periodic fevers is unified by undiagnosed but recurrent fever. Unfortunately the diagnosis of these disorders is hampered by their infrequency, protean features and a lack of clear criteria. Even more problematic is knowing who should be tested and for which monogenic marker?
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NIH Discovers Otulipenia - New Infantile Autoinflammatory Disorder
Researchers at the National Institutes of Health, led by Dr. Dan Kastner, have led the way in the discovery and understanding of numerous autoinflammatory diseases.
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Canakinumab Yields Genetic and Disease Modifying Effects in TRAPS Patients
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease resulting from mutations of the TNF super family receptor 1A (TNFRSF1A) gene.
Epigenetic Changes to Inflammasome Found in Autoinflammatory Syndromes
The gene mutations underlying inflammasome activity have been well described, but there appears to be variable penetrance among patients with the same gene mutation, suggesting additional mechanisms may influence disease expression.
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Pulmonary arterial hypertension is a very uncommon complication of Adult onset Stills disease - 4.8% of 41 AOSD pts developed PAH - often severe, with a mortality risk. https://t.co/XjyVArMNBl
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Dr. John Cush RheumNow ( View Tweet)
Vasculitis may complicate autoinflammatory Dz - in FMF (IgA vasculitis, PAN), vasculitis may occur w/ CAPS, TRAPS, HIDS, DIRA, PAPA & Behcets syndromes. Vasculitis is part of DAD2 deficiency (STING-assoc vasculopathy w/ onset in infancy-SAVI (PAN-like) https://t.co/7MKo05pOa3
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Dr. John Cush RheumNow ( View Tweet)
