CAPS

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  Más calidad de vida con biológicos en niños con patologías autoinflamatorias
  Meltwater News, 2011-03-28 03:28:11

  
  En el segundo gran grupo, el del síndrome de la fiebre persistente, no mantienen estos episodios tan marcados. Aquí se ubica el síndrome de CAPS o criopirinopatías. Las criopirinas son las proteínas que ponen en marcha el mecanismo inflamatorio.
  

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  Periodic fever syndromes in Eastern and Central European countries
  Google News, 2010-12-02 18:59:19

  
  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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  Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France
  Google BlogSearch, 0000-00-00 00:00:00

  
  
  Abstract
  
  Background Cryopyrin-associated periodic syndromes (CAPS) consist of a continuum of autoinflammatory diseases caused by a defect in interleukin 1β regulation. Although symptoms may vary widely, the discovery, in 2001, of the gene involved (NLRP3) has dramatically helped diagnosis.
  
  Objectives To define the spectrum and prevalence of NLRP3 mutations in France and to delineate initial criteria before molecular analysis.
  
  
  Methods Retrospective review (2001–9) of genetic analysis data and request forms of patients living in France with an NLRP3 mutation since the set up of CAPS molecular diagnosis by the three French laboratories providing this test (GenMAI network).
  
  
  
  Results Over 800 analyses of this gene have been conducted, identifying 135 cases with an NLRP3 mutation (55 probands; 33 multiplex families); the estimated prevalence in France was equal to 1/360 000. A total of 21 different sequence variants were detected, among which four are common and nine are new mutations.
  
  
  
  Conclusions Although the number of NLRP3 test requests has doubled over the past 5 years, genetic screening has not contributed to enhanced detection of new index cases each year. There are two possible reasons for this: (i) no clinical prerequisite for genetic diagnosis and (ii) few new large families are now identified (unlike the initial study based on a selection by linkage). A set of initial clinical criteria have been drawn up which it is recommended should be fulfilled before a patient is tested: at least three recurrent bouts, age at disease onset < 20 years and elevated levels of C-reactive protein, especially in individuals with urticaria and moderate fever.
  

CAPS in the News

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  Cuts in Ireland drastically impacting young man with CINCA's future
  Google BlogSearch, 2011-09-13 00:00:00

  
  Aisling McNiffe's voice crackles when she talks about her son's school prospects. Jack, a chirpy, fair-haired six-year old with a fondness for Toy Story movies, is the only person in the world known to have both Down's Syndrome and CINCA Syndrome, a degenerative disease that causes crippling headaches, severe arthritis, skin rashes, deafness and blindness.
  

CAPS Research

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  Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.
  Recent scientific publications, 2012-03-15 00:00:00

  
  Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS.
  

Clinical Trials

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  Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients
  Google BlogSearch, 2011-07-18 00:00:00

  
  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.
  

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  “Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)”
  Clinical Trials - NOMID, 2011-03-03 00:00:00

  
  Overall Status: Recruiting

  This study will examine and test patients with neonatal onset multi-system inflammatory disease (NOMID) to learn more about the cause and course of the disease. It will study the disease signs and symptoms and the possible role of a gene called CIAS1, and it will develop a database to gather information on patients with NOMID in the United States and around the world. It will also serve as a screening protocol to offer eligible patients participation in a treatment protocol, if an appropriate one is available.
  

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  Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients
  Clinical Trials - Muckle Wells, 2010-10-01 06:00:00

  
  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
  

FCAS

Muckle-Wells

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  Four cases of Muckle-Wells syndrome within the same family
  Medworm: Muckle Wells, 2011-02-05 16:27:02

  
  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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  Anakinra Effective for Severe Muckle-Wells Syndrome
  Medworm: Muckle Wells, 2010-12-09 22:00:25

  
  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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  Democrat unites two families affected by rare syndrome - Dundalk Democrat
  Google News, 2010-09-16 12:47:38

  
  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. ...
  

NOMID

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  Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
  Google BlogSearch, 2011-06-03 00:00:00

  
  This study will evaluate the safety and effectiveness of anakinra (Kineret(Registered Trademark)) for treating patients with neonatal onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and arthropathy (CINCA) syndrome.
  

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  NOMID in the news in Canada
  Meltwater News, 2011-02-17 01:32:18

  
  Such is the case for seven-year-old Brampton resident Michael Spiridakis, who suffers from neonatal onset multisystem inflammatory disease (NOMID), a genetic disorder that causes uncontrolled inflammation in multiple parts of the body.

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  Wood River teen pushes recognition of rare diseases
  Meltwater News, 2011-02-14 23:09:43

  
  Radney, 16, has a particular interest in the subject of rare diseases because almost four years ago she discovered she has Neonatal Onset Multisystem Inflammatory Disease, also called NOMID.....
  

NOMID 2

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  Drug halts organ damage in inflammatory genetic disorder
  Google BlogSearch, 2012-02-13 00:00:00

  
  NIH study shows benefits of long-term Kineret therapy in people with NOMID
  

Treatments

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  From the Australian Prescriber: New drugs Canukinumab
  Meltwater News, 2011-04-01 05:33:39

  
  Canakinumab

  Some of the views expressed in the following notes on newly approved products should be regarded as tentative, as there may have been limited published data and little experience in Australia of their safety or efficacy. However, the Editorial Executive Committee believes that comments made in good faith at an early stage may still be of value. As a result of fuller experience, initial comments may need to be modified. The Committee is prepared to do this. Before new drugs are prescribed, the Committee believes it is important that full information is obtained either from the manufacturer's approved product information, a drug information centre or some other appropriate source.

  (Aust Prescr 2011;34:55-9)

  Ilaris (Novartis)
  vials containing 150 mg lyophilised powder for reconstitution
  Approved indication: cryopyrin-associated periodic syndromes
  Australian Medicines Handbook section 15.2.2
  

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  La Respuesta al Canakinumab en el Tratamiento del CAPS dura 2 Añ
  Meltwater News, 2010-12-22 19:02:18

  
  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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  Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response
  Google BlogSearch, 2010-11-26 19:55:30

  
  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