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CAPS Nachrichten der Gemeinschaft

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    Four cases of Muckle-Wells syndrome within the same family
    News, publiziert vor 7 Tage

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    ABSTRACT

    Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication and can be found in about 25% of the cases. It has been demonstrated that there is an association with mutations in the NLRP3 gene, which codifies cryopyrin, a protein responsible for regulating the production of proinflammatory cytokines, such as interleukin-1Beta. The authors report four cases of the disease within a family.

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    La Respuesta al Canakinumab en el Tratamiento del CAPS dura 2 Añ
    News, publiziert vor etwa 1 Monat

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    Article in SPANISH language:

    By: BRUCE JANCIN, Skin & Allergy News Digital Network

    GOTEBORG, SUECIA  - El bloqueo de la interleucina 1 (IL-1) con canakinumab aportó una remisión clínica rápida y constante a casi todos los niños y adultos con síndromes periódicos asociados a la criopirina (CAPS) que participaron en un extenso estudio de 2 años de duración.

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    Anakinra Effective for Severe Muckle-Wells Syndrome
    News, publiziert vor 2 Monate

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    The recombinant interleukin (IL)-1 receptor antagonist anakinra is safe and effective for severe Muckle-Wells syndrome, according to a report in the November 15th Arthritis & Rheumatism online. Reuters Health Information (Source: Medscape Medical News Headlines)

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    Periodic fever syndromes in Eastern and Central European countries
    News, publiziert vor 2 Monate

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    Objective

    To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE) countries, with a particular interest on the diagnostic facilities in these countries.

    Methods

    Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire.

    Results

    Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF), 14 with mevalonate-kinase deficiency (MKD), 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA). Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS) patients.

    Conclusions

    The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.

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    Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response
    News, publiziert vor 3 Monate

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    This link will take you to the full text article.

    Abstract:

    Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS. Diagnosis is often delayed and requires a thorough review of clinical symptoms. Remarkable advances in our understanding of the genetics and the molecular pathway that is responsible for the clinical phenotype of CAPS has led to the development of effective treatments. It also has become clear that the NLRP3 inflammasome plays a critical role in innate immune defense and therefore has wider implications for other inflammatory disease states.

    Curr Allergy Asthma Rep. 2010 Nov 23;

    Authors: Yu JR, Leslie KS

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    Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients
    News, publiziert vor 4 Monate

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    Status: Recruiting, Condition Summary: Cryopyrin-associated Periodic Syndromes (CAPS); Familial Cold Autoinflam Syn (FCAS); Muckle-wells Syn (MWS); Neonatal Onset Multisystem Inflam Disease (NOMID)

    Brief Summary

    Official Title: “An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients”

    The purpose of this observational study is to collect additional information regarding long-term safety and effectiveness of Ilaris in the treatment of CAPS patients in clinical practice.

    Study Type: Observational

    Study Design: Observational Model: Cohort, Time Perspective: Prospective

    Study Primary Completion Date: November 2014

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    A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease
    News, publiziert vor 5 Monate

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    Objectives: - To determine the effectiveness of XOMA 052 as a treatment for inflammation in adults with the autoinflammatory diseases Familial Cold Autoinflammatory Syndrome (FCAS)/Muckle-Wells Syndrome (MWS) and Behcet's Disease.

    Eligibility: - FCAS/ MWS: Individuals at least 18 years of age who have a known history of the typical disease. - Behcet's Disease: Individuals at least 18 years of age who have evidence of active disease, such as oral or genital ulcers or eye disease.

    Status: Recruiting, Condition Summary: Muckle Wells Syndrome; Autoinflammatory; Behcet's Disease

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    Democrat unites two families affected by rare syndrome - Dundalk Democrat
    News, publiziert vor 5 Monate

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    Democrat unites two families affected by rare syndrome Hannah was diagnosed with Muckle Wells in November 2009 and Michele's nine-year-old daughter, Sophia, was diagnosed with the same syndrome last June. ...

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    Swedish Orphan Biovitrum's Kineret(R) has Received Orphan Drug Designation in the USA
    News, publiziert vor 6 Monate

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    Swedish Orphan Biovitrum (STO: SOBI) today announced that the US FDA Office of Orphan Products Development (OOPD) has granted orphan drug designation (ODD) to Kineret® for the treatment of cryopyrin-associated periodic syndromes (CAPS).
     

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    Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS).
    News, publiziert vor 9 Monate

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    The efficacy of canakinumab in the treatment of CAPS provides proof of concept that IL-1β is an important factor in the pathogenesis of this disorder. Canakinumab given at 150 mg per dose induced a complete response after the administration of a single dose in almost all the patients as well as inflammatory markers, and the effect appears to be sustained for up to at least 2 months between injections and continues to be effective with very little patient drop-out for longer periods. Some patients need higher doses (up to 300 mg) to induce a complete response. HRQoL and general mental and physical health and fatigue scores improved to the levels expected in the general population. The effect of canakinumab was similar in adults and children. To date, no deaths or life-threatening AEs have ocurred in CAPS
    patients treated with canakinumab and only mild AEs and symptoms were noted, none of which affected continuation of treatment. Still, there is a potentially higher risk for systemic infections and perhaps vertigo, especially in patients with MWS, which require special attention. The ability to administer canakinumab every 2 months with implications for compliance and minimal injection-site reactions is also attractive.