Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)

Mamoudjy, Nafissa; Maurey, Hélène; Marié, Isabelle; Koné‐Paut, Isabelle; Deiva, Kumaran

doi:10.1016/j.ejpn.2017.04.675

Cited by 5 publications

(12 citation statements)

References 6 publications

(7 reference statements)

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“…In this study, all but 1 of the patients underwent MRI of the brain and inner ear, and all MRI findings were reported as normal. This is consistent with the results of previous studies of the effect of canakinumab treatment on neurologic symptoms in CAPS patients . Although it has been suggested that anakinra may have superior efficacy for the amelioration of inflammatory cerebrospinal fluid (CSF) biomarkers in patients with NOMID based on observations in a small number of patients who underwent serial CSF examination while sequentially receiving anakinra or canakinumab , there are no hard data to suggest that this translates into worse neurologic outcomes for NOMID patients treated with canakinumab compared to those treated with anakinra.…”

Section: Discussionsupporting

confidence: 88%

Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger

Brogan

Hofer

Kuemmerle‐Deschner³

et al. 2019

Arthritis & Rheumatology

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ObjectiveTo assess long‐term efficacy and safety of canakinumab and the response to vaccination in children ages ≤5 years with cryopyrin‐associated periodic syndrome (CAPS).Methods CAPS patients (ages ≤5 years) received 2 mg/kg canakinumab subcutaneously every 8 weeks; patients with neonatal‐onset multisystem inflammatory disease (NOMID) received a starting dose of 4 mg/kg in this open‐label trial. Efficacy was evaluated using physician global assessment of disease activity and serum levels of C‐reactive protein (CRP) and amyloid A (SAA). Adverse events (AEs) were recorded. Vaccination response was evaluated using postvaccination antibody titers at 4 and 8 weeks after immunization.ResultsOf the 17 patients enrolled, 12 (71%) had Muckle‐Wells syndrome, 4 (24%) had NOMID, and 1 (6%) had familial cold autoinflammatory syndrome. All 17 patients had a complete response to canakinumab. Disease activity improved according to the physician global assessment, and for 65% of the patients autoinflammatory disease was characterized as “absent” at the end of the study. Median CRP levels decreased over time. No such change was evident in SAA levels. During the extension study, postvaccination antibody titers increased above protective levels in 16 (94%) of 17 assessable vaccinations. Ten of the patients (59%) had AEs suspected to be related to canakinumab; 8 (47%) experienced at least 1 serious AE (SAE). None of the AEs or SAEs required interruption of canakinumab therapy.ConclusionOur findings indicate that canakinumab effectively maintains efficacy through 152 weeks and appears to have no effect on the ability to produce antibodies against standard childhood non‐live vaccines. The safety profile of canakinumab was consistent with previous studies, supporting long‐term use of canakinumab for CAPS in children ≤5 years of age.

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Section: Discussionsupporting

confidence: 88%

Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger

Brogan

Hofer

Kuemmerle‐Deschner³

et al. 2019

Arthritis & Rheumatology

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“…Other observational studies have also shown the effectiveness of canakinumab in improving the Disease Activity Score (DAS), 57 65 Autoinflammatory Disease Activity Index (AIDAI) score, 36 83 complete/partial resolution of symptoms, 38 45 88 improvement in physician/patient assessed PROs 36 65 85 and the Child Health Assessment Questionnaire (CHAQ). 65 Of the eight studies assessing other outcomes, 23 42 45 47 55– 57 65 treatment with canakinumab was associated with improvement or stabilisation in neurological outcomes (eg, migrainous headache), 23 42 45 hearing loss, 23 42 55– 57 65 vision outcomes (eg, uveitis, conjunctivitis) 23 47 and musculoskeletal outcomes. 23…”

Section: Resultsmentioning

confidence: 99%

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome

et al. 2020

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ObjectivesSeveral therapies are used for the treatment of rareautoinflammatory conditions like cryopyrin-associated periodic fever syndromes (CAPS), hyperimmunoglobulin Dsyndrome (HIDS)/mevalonate kinase deficiency (MKD) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS). However, reviews reporting on treatment outcomes of these therapies are lacking.MethodsA systematic literature review was conducted using Embase, MEDLINE, MEDLINE-In Process and Cochrane databases to identify the randomised/non-randomised controlled trials (RCTs/non-RCTs) and real-world observational studies of CAPS, HIDS/MKD and TRAPS published as full-texts (January 2000–September 2017) or conference abstracts (January 2014–September 2017). Studies with data for ≥1 biologic were included. Studies with <5 patients were excluded.ResultsOf the 3 342 retrieved publications, 72 studies were included (CAPS, n=43; HIDS/MKD, n=9; TRAPS, n=7; studies with ≥2 cohorts, n=13). Most studies were full-text (n=56), published after 2010 (n=56) and real-world observational studies (n=58). Among included studies, four were RCTs (canakinumab, n=2 (CAPS, n=1; HIDS/MKD and TRAPS, n=1); rilonacept, n=1 (in CAPS); simvastatin, n=1 (in HIDS/MKD)). Canakinumab and anakinra were the most commonly used therapies for CAPS and HIDS/MKD, whereas etanercept, canakinumab and anakinra were the most common for TRAPS. The available evidence suggested the efficacy or effectiveness of canakinumab and anakinra in CAPS, HIDS/MKD and TRAPS, and of etanercept in TRAPS; asingle RCT demonstrated the efficacy of rilonacept in CAPS.ConclusionsCanakinumab, anakinra, etanercept and rilonacept were reported to be well tolerated; however, injection-site reactions were observed frequently with anakinra, rilonacept and etanercept. Data on the use of tocilizumab, infliximab and adalimumab in these conditions were limited; thus, further research is warranted.

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“…This can be associated with leptomeningeal inflammation but also white matter lesions akin to those seen in MS. 6,8,9 Furthermore, IL-1β has also been shown to result in inflammatory synaptopathy and neurodegeneration, both of which are also seen in MS, which creates additional complexities when differentiating MS and CAPS. 7,10 Therefore, such differentiation may be difficult based on imaging alone. Hence, correlation with patient history-specifically fever, arthralgias, and urticariafamily history, and lack of MS treatment response may raise a diagnosis of CAPS.…”

Section: Discussionmentioning

confidence: 99%

Familial cold autoinflammatory syndrome and multiple sclerosis

Ali

Chaudhuri

Field

et al. 2022

Clinical & Exp Neuroim

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Background Cryopyrin‐associated periodic syndrome (CAPS) is an autoinflammatory disorder with a spectrum ranging from the milder familial cold auto‐inflammatory syndrome (FCAS) phenotype to the more severe Muckle–Wells Syndrome. Although headaches are the most common neurological symptoms, neuroinflammatory diseases such as multiple sclerosis (MS) have only been reported in the more severe phenotypes. Case Presentation We describe a 43‐year‐old male diagnosed with relapse‐remitting MS who developed cold‐induced arthralgias and urticaria. He initially presented with facial numbness and arthralgias in his late teenage years, and brain magnetic resonance imaging (MRI) demonstrated multiple lesions with periventricular white matter extension. Oligoclonal bands were detected in the cerebrospinal fluid (CSF). Symptoms gradually improved, and a decade later he presented with numbness at upper limbs and tongue. Brain and spine MRI showed new lesions, but CSF was unremarkable. He was started on interferon β‐1a with symptomatic improvement until another flare around 13 years later. Treatment was changed to dimethyl fumarate. During this hospitalization, urticaria was problematic and particularly associated with cold temperatures. This raised suspicion for possible CAPS and subsequently confirmed with an A439V mutation in the NLRP3 gene, consistent with FCAS. Anakinra was started but was not tolerated because of localized reactions despite desensitization. His serum amyloid A was mildly elevated at 9 mg/L (reference range 0–6). He remains stable from a neurological perspective, including imaging, and continues dimethyl fumarate. Conclusions To date, FCAS and possible association with MS has not been described. The case raises challenges in the diagnosis of concurrent disease processes. It also highlights that neurological sequelae should be considered in all spectrums of CAPS, and distinctions with MS should be made where possible.

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Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)

Cited by 5 publications

References 6 publications

Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger

Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome

Familial cold autoinflammatory syndrome and multiple sclerosis

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