pediatric rheumatology european society

Size: px
Start display at page:

Download "pediatric rheumatology european society"

Transcription

1 Autoinflammatory Diseases Working Party Chairman: Secretary: pediatric rheumatology european society The PRES European Network of Registries for Autoinflammatory Diseases in Childhood (EuroFever) STUDY PROTOCOL Version 6 February, 2015 Participants to the Eurofever Project Principal Investigator: Partner: Steering Committee: General aims of the Eurofever project The general aim of the Eurofever project is to build a network on Autoinflammatory diseases in childhood. In particular the project aims to complete and integrate already existing initiatives in this field to: sensitize pediatricians and pediatric rheumatologists to the prompt recognition of these diseases; provide proper information to families affected by these conditions, and increase the knowledge on the clinical presentation, response to treatment and complications of theses rare disorders. The Eurofever project includes the following actions: a web-based survey on the prevalence of diagnosed or suspected autoinflammatory diseases among all European Paediatric Rheumatology Centers will be performed, a web-based international registry for Autoinflammatory diseases a survey on the efficacy of treatment in these disorders elaboration of outcome measures for possible future therapeutic trials, informative webpages on each disorder will be established for patients and physicians. Version 2 06/02/2015 1

2 The Eurofever registry 1. General Introduction 1.1. Aims of the Registry Primary endpoint of the Registry: 1. To collect information on the clinical presentation, outcome and response to treatment of patients affected by the major Autoinflammatory diseases. 2. To assess the proportion of AID subjects treated with different approaches with -emergent moderate/severe and SAEs, referred as all moderate/severe AEs and SAEs belonging but not limited to events of special interest (ESI) such as malignancies and inflammatory bowel disease and other such as opportunistic infections, autoimmune events, cardiovascular events, central nervous system involvement (e.g. optic neuritis, demyelinating disease), infertility, gastrointestinal bleeding, macrophage activation syndrome (MAS). 3. To evaluate the clinical remission on and off medication considered as total absence of sign and symptoms; improvement AID variables (physician s evaluation of disease activity, parent s evaluation of overall well-being, index of inflammation-either ESR, SAA or CRP, fever), and auto-inflammatory diseases activity index (AIDAI) 1) to provide evidence-based classification criteria for the Autoinflammatory diseases lacking a precise genetic characterization. 2) to develop guidelines to justify a genetic testing for each disease 3) to create a permanent network of Centres dealing with patients affected by Autoinflammatory diseases for future clinical, pathogenic, genetic and therapeutic studies. 4) to identify informative families or of clusters of genetically negative patients for possible future genetic studiesto establish baseline cohort for future outcome studies. 5) To evaluate: i) Three to 10-year and longer probability of not experiencing AEs. ii) Incidence rate of drug-emergent moderate/severe AEs and SAEs in patients under different treatment. iii) Treatment adherence and reasons of treatment withdrawal/change (e.g. lack of efficacy, AE and SAE or add-on therapy for inefficacy/intolerance, remission) iv) Time to flare during treatment course and after discontinuation. v) Baseline clinical and demographic predictors of safety (either clinically or laboratory), response, remission. The project is originally addressed to the Centres referring to the PRES/PRINTO network that have a long lasting and well established experience in the collection of Paediatric Rheumatology clinical data. Moreover, the project is open to a direct functional integration to other already existent initiatives involving adult patients (i.e. Eurotraps, MKD registry) and other similar pediatric networks (i.e. CARRA, ESID). The conditions below will be considered. For each disease there will at least one coordinator (Disease-PI) chosen among the associated and collaborating partner on the basis of their expertise in the specific diseases in childhood or participation to other ongoing initiatives in connection with the Eurofever Project (see also point 6). Behçet disease Blau s/early onset sarcoidosis ( Version 2 06/02/2015 2

3 Cryopyrin associated periodic syndrome (CAPS) ( ) Chronic recurrent multifocal osteomyelitis (CRMO) ( ) Familial Mediterrean Fever (FMF) ( ) Mevalonate kinase deficency (MKD) ( in collaboration with for Hyper IgD registry) Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome (F ) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) ( in collaboration with for Eurotraps) Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome ( ) Undefined Periodic fever ( and Steering Committee) Familial autoinflammatory diseases of unknown origin ( ) NALP12-associated periodic syndrome ( ) Deficiency of IL-1 receptor antagonist ( ) CANDLE syndrome ( ) DITRA syndrome (Steering Committee) Schnitzler syndrome ( with the support of ) Majeed syndrome ( ) Deficiency of Adenosine Deaminase 2 (DADA2) (Steering Committee) STING-asociated vasculopathy with onset in infancy (SAVI) (Steering Committee) CARD14 mediated psoriasis (CAMPS) (Steering Committee) Emerging new autoinflammatory diseases (Steering Committee) 1.2 Specific aims for each disease Behçet disease: Primary endpoint: To evaluate the frequency of BD in children as well as to increase the knowledge on clinical presentation - To validate a definition tree provided by the PED BD cohort study - To define percentage of resistant patients and treatment options. To evaluate disease management - To compare severity/outcome between BD patients living in different countries - To outline associated diseases Blau s disease: Primary endpoint: to elucidate/define the clinical spectrum and provide a clinical and biological relevant classification of pediatric sarcoidosis Secondary endpoints - To obtain data on the outcome of Blau syndrome and pediatric onset sarcoidosis in general - To define markers for disease activity measurements - To obtain data on effective therapies for Blau s and pediatric onset sarcoidosis - To define genotype/phenotype correlations for patients from whom genotype is available CAPS: Primary endpoint - to validate the existing classification/ diagnostic criteria for CAPS - To define a better clinical description, define overlapping symptoms of FCAS, Muckle Wells and CINCA (CAPS) - To obtain epidemiological data/estimate the frequency in the European population - To evaluate treatment outcome under biologic treatments Version 2 06/02/2015 3

4 CRMO: Primary endpoint: To set up classification and diagnostic criteria for chronic non-bacterial osteomyelitis/crmo - To define the overlapping symptoms of CRMO with other diseases like SAPHO, Crohn's, enthesitis associated arthritis, reactive arthritis, hypophosphatasia, Majeed syndrome and IL-1 RA deficiency - To gather data on different treatment strategies and their effectiveness - To compare severity /outcome between CRMO patients living in different countries and related to initial severity FMF : Primary endpoint: To validate the existing diagnostic trees and two diagnostic criteria for FMF - To test the diagnostic tree for FMF in the context of other diseases - To define percentage of Colchicine resistant patients - To compare severity/outcome between FMF patients living in different countries with different ethnicities - To outline associated diseases - To look for the risk factors for the development of amyloidosis MKD: Primary endpoint: to improve early diagnosis of affected patients - to better define the clinical phenotypic spectrum in relation to the genotype - to survey treatment options and response to therapy PAPA syndrome Primary endpoint: To establish the clinical phenotypes and the prevalence of PAPA syndrome in the EU Secondary endpoints - To establish genotype-phenotype correlations - To establish therapeutic response to traditional and biologic treatments - To establish a network for future collection of biological samples for multi-center studies aimed at defining molecular/cellular correlation with response to specific biologic therapies PFAPA and Undefined periodic fevers: Primary endpoint: To describe the clinical features of patients with periodic fevers of unknown origin and separate in different clusters. - To compare the different clusters in terms of laboratory results, response to treatment and outcome. - To evaluate for each patient if a PFAPA syndrome may be considered according to the current published sets of classification criteria. - To analyse the different clusters for similarities to known genetic auto-inflammatory diseases. TRAPS Primary endpoint: To analyze the clinical characteristics of TRAPS at presentation and to describe the natural course of the disease. - To analyze the actual clinical relevance of low-penetrance mutations (i.e. R92Q or P46L) Version 2 06/02/2015 4

5 - To identify the clinical features consistent with a TRAPS-like phenotype for possible future genetic studies - To look for features predicting a worse outcome or higher penetrance More recently described AIDs Primary endpoint: To analyze the clinical characteristics of New Autoinflammatory diseases at presentation and to describe the natural course of the diseases. - To identify the spectrum of clinical features associated to each disease - To enrol patients affected from each disease in a unique Registry and evaluate their incidence and prevalence - To look for features predicting a worse outcome or higher penetrance - To evaluate the efficacy and safety of treatment with particular regards to biological 2. Building the Eurofever Registry Given to the large degree of clinical overlap among the various Autoinflammatory diseases a unique Registry, rather than single registries for each disease, will be elaborated. This will allow the collection of homogenous information useful for the primary and secondary aims of the Project. In the first step, Disease-PIs were asked to identify all the variables of interest for each condition (personal data, clinical manifestations, response to treatment, etc). In a second step, a first draft of a unique form for data collection was sent to all the experts for their comments. Further revisions of the forms were subsequently evaluated by the experts for their further comments. After three rounds of comments via , the definitive version of the Registry has been approved during the Investigator Meeting held in Camogli, Genoa, Italy (March 29-31, 2009). The web-version of the Registry (created by the PRINTO web-masters) will be posted for free on the PRINTO website within August 2009 with access limited to authorised centres (e.g. with ethics committee approval). Possible links to other ongoing web-based initiatives (PRES website, Eurotraps, Infevers, MKD registry etc) will be possible. Before the availability of web-based registry data collection, in authorised centres, will proceed with paper case report forms. 3. Inclusion/exclusion criteria 3.1 Characteristics of eligible/ineligible patients for each condition: Behçet 1. Patients meeting the international criteria (Lancet 1990) - oral (aphthous) ulcers (any shape, size or number at least 3 times in any 12 months), along with 2 out of the next 4 "hallmark" symptoms: - genital ulcers (including anal ulcers and spots in the genital region and swollen testicles or epididymitis in men), - skin lesions (papulo-pustules, folliculitis, erythema nodosum, acne in post-adolescents not on corticosteroids), - eye inflammation (iritis, uveitis, retinal vasculitis, cells in the vitreous), - pathergy reaction (papule >2 mm diameter, hrs or more after needle-prick). Or 2. Patients diagnosed by their physician with Behçet and not fulfilling the International criteria after review of Disease s PI Version 2 06/02/2015 5

6 Blau s Disease/Early onset sarcoidosis 1. Inflammatory disease of childhood onset (< 17 years) with NOD2 mutation 2. Inflammatory disease of childhood onset (< 17 years) with histopathological evidence of noncaseating epithelioid cell and giant cell granuloma 3. Approval by disease-pi after review of data and, if necessary, discussion with the treating center 4. Exclusion of: - Infections (staining, culture, PCR) - Pediatric immune deficiency disorders (normal NBT, Immunoglobulin levels, lymphocyte subsets, vaccination response) - Crohn s disease - Systemic granulomatous vasculitides - Primary biliary cirrhosis CAPS a) Inflammatory disease associated to mutation of CIAS1/NALP3 gene, or b) at least 1 of the 3 following situations: 1. Recurrent urticaria (or urticaria-like persisting rash) of early onset (<1 year of age) with suspicion of (or proven) central nervous system involvement (e.g. recurrent headaches, irritability in infants, sterile meningitis with neutrophils) and/or hypertrophic arthropathy 2. Recurrent episodes of cold-induced fever with urticaria of early onset (<5 years of age) with familial history suggesting autosomal dominant history 3. Recurrent episodes of urticaria (or urticaria-like persisting rash) and fulfilling at least 2 of the following 4 criteria: - urticaria-episodes associated with fever - early onset (<5 years of age) - familial history suggesting autosomal dominant history - recurrent arthritis/arthralgias/myalgia CRMO 1. Mono-, oligo- or multifocal inflammatory bone lesions (osteomyelitis, osteitis, osteosclerosis) 2. Duration of complaints more than 6 weeks 3. Infection excluded 4. Malignancy excluded 5. Diagnosis made after the DIRA All patients with mutations of IL1RN gene FMF There will be 2 groups: 1. All patients with two MEFV mutations 2. Those who have 2 of the following 5: - Fever: Axillary temperature of >38C, 6 72 h of duration, >3 attack - Abdominal pain, 6 72 h of duration, >3 attacks - Chest pain: 6 72 h of duration, >3 attacks - Arthritis: 6 72 h of duration, >3 attacks, oligoarthritis - Family history of FMF MKD 1. Proven MKD: - 2 pathogenic mutations in both alleles of MVK and/or residual MK enzyme activity below 20% of normal Version 2 06/02/2015 6

7 - 1 pathogenic mutation in MVK and strongly elevated urinary mevalonic acid during fever. 2. Clinical suspicion: meets all characteristics mentioned below: - Recurrent febrile episodes during >6 months with documented elevation of acute phase proteins - Onset before age 6 y - One or more of: painful lymphadenopathy, vomiting, diarrhea - One or more of: elevated serum IgA, elevated serum IgD, elevated urinary mevalonic acid NALP12-associated periodic syndrome All patients with mutations of NALP12 gene PAPA 1. Mutation in the pstpip1 gene 2. Suspected diagnosis based on clinical grounds: At least 1 episode of sterile pyogenic arthritis (SF neutrophils > mm3) and/or pyoderma gangrenosum AND 3. Approved by the disease-pi after review of the data and, if deemed necessary, discussion with the treating center. PFAPA Patients fulfilling all the following criteria: 1. Periodic Fever for at least 6 months. Daily fever of at least 38.5 C (axillar) for 2 to 7 days. 2. Pharyngitis, cervical adenitis and/or oral aphtosis. 3. Exclusion of other causes of recurrent fever (clinical or by laboratory depending on history). 4. Exclusion of infections, immunodeficiency and cyclic neutropenia. 5. Full recovery between episodes. 6. Normal linear growth. TRAPS 1. Inflammatory disease associated to mutation of TNFRSF1A gene 2. Presence of at least three of the following: - Positive family history - Duration of episodes > 7 days - eye involvement (conjunctivitis and or periorbital edema) - unexplained AA amyloidosis CANDLE Inflammatory disease associated to mutation of gene PSMB8 Presence of a clinical picture consistent with the disease: recurrent fever, annular erythematous plaque, lipodystrophy, joint contractures, muscle weakness and atrophy, hepatosplenomegaly. DITRA Inflammatory disease associated to mutation of gene IL36RN Presence of a clinical picture consistent with the disease: recurrent and sudden onset flares of generalized erythematous and pustular skin rash associated with fever. Schnitzler syndrome Version 2 06/02/2015 7

8 Presence of Urticarial skin rash and monoclonal IgM component and at least 2 of the following criteria: - Fever - Arthralgia or arthritis - Bone pain - Palpable lymph nodes - Liver or spleen enlargement - Elevated ESR - Leukocytosis - Abnormal findings on bone morphologic investigations Majeed syndrome Inflammatory disease associated to mutation of gene LPIN2 Presence of a clinical picture consistent with the disease: chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, neutrophilic dermatosis. DADA2 Inflammatory disease associated to mutation of gene CECR1 Presence of a clinical picture consistent with the disease: early onset livedo reticularis, cutaneous and systemic polyarteritis, ischemic/haemorrhagic strokes. SAVI Inflammatory disease associated to mutation of gene TMEM173 Presence of a clinical picture consistent with the disease: severe skin lesions resulting in ulceration, eschar formation, necrosis, progressive interstitial lung disease. CAMPS Inflammatory disease associated to mutation of gene CARD14 Presence of a clinical picture consistent with the disease: familial cases of plaque psoriasis, severe generalized pustular psoriasis or pityriasis rubra pilaris. Undefined periodic fevers - Patients with recurrent attacks of fever at least 38.5 C (axillar) for at least 6 month, associated with increased acute phase reactants during the episodes and normal clinical and laboratory features in between the attacks, not fulfilling the inclusion criteria for PFAPA, MKD, FMF, TRAPS, CAPS. - Exclusion of other causes of recurrent fever Genetic analysis for patients living in Countries where Lab s facilities are not present For patients with a strong clinical suspicion of a given genetically-determined disease living in Countries in which the genetic analysis is not available, the link with laboratory available for free genetic analysis will be provided (see point 6 for the list of Laboratories and genes) in accordance with standard clinical care. No specific funding are provided by the Eurofever Project for the coverage of the costs related to the genetic analysis. Version 2 06/02/2015 8

9 The Center in charge of the patient will send a brief summary of the main characteristic of the patient to the respective Disease-PI and/or to the Laboratory available for free genetic testing. A free genetic test will be provided only after approval of Disease-PI and/or Laboratory. All the costs related to sample shipping (including customs fees) will be covered by the Centre taking care of the patient. 3.3 IRBs and informed consent. Written translated informed consent form will be obtained from parents or legal guardian as appropriate. Data will be collected anonymously, using patient ID code. Proper ethics committee permission will be obtained if required by the national regulations of each participating country The Eurofever administrative team in collaboration with PRINTO (Genoa, Italy) will assist participating centres for ethics committee approval. 3.3 Patients enrolment - Centers linked to the PRES/PRINTO network will directly insert data on the eligible patients on a web-based registry. The data collection will be done via an internet database through the secured PRINTO website and/or via fax. The PRINTO coordinating centre in Genoa, Italy will be responsible for oversight of data collection and query management. Paper case report forms are provided at the end of the protocol - Adult Centers and other initiatives (i.e.eurotraps, MKD registry) The modality of enrolment of patients followed by Centers not included in the PRES/PRINTO network will be directly agreed with each linked initiative. A Reference Center will be identified by the Eurofever Steering Committee in accordance with the linked initiative. The Reference Center will identified the Centers not belonging to the PRES/PRINTO network to be involved in the Project. All the aspects related to the informed consent and IRB will be managed by the Eurofever administrative team in collaboration with PRINTO. The enrolment of the patients will be performed according to the following possible strategies: i) The Reference Center will centralize the clinical data from the other centers. The Reference Center will receive a password to transfer the data on the Eurofever web-site. ii) The centers identified by the Reference Center will be provided by a password for the direct enrolment of the patients on the Eurofever web-site. 3.4 Data collection For each patient the following forms should be completed. Baseline 1) Demographic and diagnosis information retrospectively retrieved from the patient s clinical chart 2) The Clinical manifestations form should be filled possibly with the collaboration of the patient/parents (or legal guardians) considering signs and symptoms from disease onset to diagnosis. 3) A Safety section where info related to moderate, severe adverse events (AEs) and serious A (SAE) are collected. 4) A questionnaire to be completed by physicians and patients together, during the visit, to assess retrospectively disease activity during the preceding 30 days. Version 2 06/02/2015 9

10 Follow up 1) The Clinical manifestations to be filled possibly with the collaboration of the patient/parents (or legal guardians) considering signs and symptoms in last 12 months. 2) A Safety section where info related to moderate, severe adverse events (AEs) and serious A (SAE) are collected. 3) A questionnaire to be completed by physicians and patients together, during the visit, to assess retrospectively disease activity during the preceding 30 days. The expanding spectrum of AID In the last few years we observed a rapid increase of the knowledge in the field of Autoinflammation with the discovery of new genes, new pathways and diseases. Moreover, in the next future, the availability of more accurate and more affordable genetic test (particularly with the NGS technique) will surely facilitate this process. For this reason we think that the number of defined Autoinflammatory diseases will increase. With these premises there is the possibility that the Eurofever electronic case report forms might slightly change with the addition of new diseases, genes and clinical manifestations Study Design This is a 3-10 year, international, multicentre, observational, safety and efficacy study aimed at collecting prospective safety, tolerability, efficacy, and treatment adherence information on AID subjects treated according to local standard of practice. This is a non-interventional study, where the medicinal products are prescribed as per the investigator s decision. The assignment of the subject to a particular therapeutic strategy is not decided in advance by the study protocol, but falls within current practice and the prescription of the medicine is clearly separated from the decision to include the subject in the study. No additional diagnostic or monitoring procedures shall be applied to the subjects and epidemiological methods will be used for the analysis of collected data. Duration and treatment will be as per investigator s decision. The nature and frequency of subjects visits to the investigator s site will be determined only by the investigator, according to his/her judgment on the basis of the clinical evolution of the subject. 3.4 Sample size Up to date 3084 patients have been enrolled in the Registry from 101 centers in 38 countries. At present baseline demographic information from 3084 (M:F=1511:1573) patients are available. In 77% complete clinical information from disease onset to diagnosis and response to treatment is also available. For each disease the number of enrolled patients is: FMF 894 pts (708 with complete clinical data); TRAPS 268 pts (226 complete); CAPS 284 pts (208 complete); MKD 189 pts (165 complete); Blau s disease 71 pts (22 complete); PAPA 27 pts (22 complete); NLRP-12 mediated periodic fever 14 pts (9 complete); DIRA 3 pts (all complete). Among multifactorial autoinflammatory diseases: PFAPA 612 pts (380 complete); CRMO 417 pts (394 complete); pediatric Bechet disease 92 pts (72 complete) and 217 patients with undefined periodic fever (182 complete). 4. Data management and Authorship Version 2 06/02/

11 4.1 Management and responsibility of clinical data Data on the single diseases will be under the direct responsibility of the Disease-PIs and Eurofever s Steering Committee and other ongoing initiatives (i.e.eurotraps..). Disease-PI will elaborate data coming from the Registry according to the aims for their specific disease and in agreement with the Eurofever Steering Committee. General epidemiological data coming from the Registry will be under the responsibility of the Steering Committee. The elaboration of Classification Criteria will be coordinated by the Steering Committee in accordance with the Disease-PIs involved. Secondary studies based on the Eurofever database can be proposed to the Eurofever s Steering Committee and Disease-PI s by other Centers that have included patients in the Eurofever Registry. Criteria for the evaluation of a secondary studies will be the following: - Scientific relevance - Clinical/scientific experience of the proposer in the field - Number of patients enrolled in the Eurofever registry for a given disease. 4.2 Authorship - Centers enrolling patients will be rewarded with the Authorship in the paper(s) related to the Eurofever Project, proportionally to the number of patients enrolled in the registry and according to a well established policy already used in the PRINTO network see article VI of the PRINTO bylaws ( In brief: Primary Results of an Eurofever Study: - For paper related to a single disease the first three position will be chosen by the Disease-PIs. The senior Author will be chosen by the Steering Committee in accordance with Disease-PIs. - For general epidemiological and guidelines papers the first and senior Authors will be chosen by the Steering Committee in accordance with Disease-PI s involved. Additionally, several other individuals who played key roles in the study's development, conduction, or analysis may be included as co-authors. The Steering Committee in accordance with Disease-PI s will determine prior to beginning a study a minimum number of patients that must be enrolled in each centre. If the minimum number of qualified patients is enrolled at one centre, then a single investigator will be included from that centre as an author on the subsequent publication reporting the primary results of the study. A centre that enrols patients in the Registry, but does not meet the minimum number for each single disease will be acknowledge with an author at least in one paper related to the Eurofever Project, according to the judgment of the Steering Committee. - Secondary Results of an Eurofever Study: Articles reporting results of studies that use data from any Eurofever database will have as the lead author the person most responsible for the design, analysis and reporting of the results. This person may or may not have been the Disease-PI s of the original study. Other authors will be included as deemed appropriate by the lead author. - All the papers related to the Eurofever Project the following phrasing will end the list of authors: for the PRES/PRINTO Eurofever Project. -The papers conducted in collaboration with other ongoing initiatives (i.e. Eurotraps) the phrasing could be modified after direct agreement with the linked initiatives (i.e. for the PRES/PRINTO Eurofever and Eurotraps Projects ). - The Authoship of papers in collaboration with other ongoing initiatives (i.e. Eurotraps or MKD registry) will be agreed among Disease-PIs in charge, the Eurofever Steering Committee and the representatives of the above mentioned initiatives. Version 2 06/02/

12 4.3 Collaboration with other ongoing or future initiative - Initiatives related to a single disease will be evaluated by the Steering Committee and the relative Disease-PI. The formal contact for these initiative will be the Disease-PI and the Steering Committee. - Initiatives related to general epidemiological data coming from the Eurofever Registry will be evaluated by the Steering Committee. The Steering Committee will look for advice from the Disease-PI s involved. The formal contact for these initiatives will be the Steering Committee. 5. Specific role of Associated and Collaborating partner in the Project Work-package PI s: (WP1, Coordination of the Project; WP3, evaluation of the Project; WP4 a webbased network of registries on pediatric Autoinflammatory diseases). (WP5: Treatment of Autoinflammatory. State of the art and definition of outcome measures) (WP2: Dissemination of the results) Disease-PI s: See 1. General Introduction Representative for Eastern European Countries Representative of other ongoing linked initiatives: Eurotraps ( ) HyperIgD registry ( ) CARRA ( ) Laboratories available for free genetic analysis: Ankara ( for MEFV) Barcellona (, NALP3, TNFRSF1A, CARD15/NOD2, MVK) Genoa ( for MVK, TNFRSF1A, NALP3, NALP12 genes) Montpellier ( for MEFV, MVK, TNFRSF1A, NALP3, NALP12 genes) Rome ( for PSTPIP1 gene) Utrecht ( for NALP3, TNFRSF1A, IL1RN, MVK, MEFV genes) Portland, USA ( in collaboration with and for CARD15/NOD2) Technical support (elaboration of the web-based registry and technical assistance, management of IRB s and informed consent) PRINTO Version 2 06/02/

Pedido de acesso a dados do Registo Nacional de Doentes Reumáticos (Reuma.pt) da Sociedade Portuguesa de Reumatologia

Pedido de acesso a dados do Registo Nacional de Doentes Reumáticos (Reuma.pt) da Sociedade Portuguesa de Reumatologia Pedido de acesso a dados do Registo Nacional de Doentes Reumáticos (Reuma.pt) da Sociedade Portuguesa de Reumatologia 1. Title Autoinflammatory Diseases: analysis based on The Rheumatic Diseases Portuguese

More information

Proceedings of the World Small Animal Veterinary Association Sydney, Australia 2007

Proceedings of the World Small Animal Veterinary Association Sydney, Australia 2007 Proceedings of the World Small Animal Sydney, Australia 2007 Hosted by: Next WSAVA Congress AUTO-INFLAMMATORY (HYPER-INFLAMMATORY) SYNDROMES AN UPDATE Dr. John M. Angles BVSc, BSc(Vet), MVS, PhD, MACVSc,

More information

Autoimmunity and autoinflammation

Autoimmunity and autoinflammation Autoimmunity and autoinflammation Primary immunodeficiencies Autoimmunity and autoinflammation 1 Primary immunodeficiencies List of some common abbreviations APECED CAPS CGD CINCA CRMO CVID FCAS FMF HIDS

More information

hereditary periodic fever periodic fever syndrome recurrent fever familial Mediterranean FMF autoinflammatory syndrome T 1 Tsutomu Oh-ishi

hereditary periodic fever periodic fever syndrome recurrent fever familial Mediterranean FMF autoinflammatory syndrome T 1 Tsutomu Oh-ishi Vol. 20 No. 3331 1 FMFTNF TRAPS IgD HIDSCAPS FMF recurrent fever autoinflammatory syndrome T 1,2 1 1 hereditary periodic fever periodic fever syndrome 3 familial Mediterranean fever FMF 4 1 Key wordsmefv

More information

Supplementary Table S1 CAPS systematic literature review search strategy

Supplementary Table S1 CAPS systematic literature review search strategy Supplementary Table S1 CAPS systematic literature review search strategy CAPS Pubmed CAPS Embase cryopyrin associated periodic syndromes [MeSH Terms] OR Cryopyrin Associated Periodic Syndromes [tiab] OR

More information

Umbrella study design in patients with Hereditary Periodic Fevers, an orphan autoimmune disease. Karine Lheritier 15 June 2016 PSI Immunology meeting

Umbrella study design in patients with Hereditary Periodic Fevers, an orphan autoimmune disease. Karine Lheritier 15 June 2016 PSI Immunology meeting Umbrella study design in patients with Hereditary Periodic Fevers, an orphan autoimmune disease Karine Lheritier 15 June 2016 PSI Immunology meeting Outline Hereditary Periodic Fevers Canakinumab Study

More information

Disclosures. Learning Objectives. Periodic Fever Syndromes. Innate Immune System. Our Immune System

Disclosures. Learning Objectives. Periodic Fever Syndromes. Innate Immune System. Our Immune System 39 th National Conference on Pediatric Health Care March 19-22, 2018 CHICAGO Disclosures Periodic Fevers in Children: Solving the puzzle leading toward treatment No disclosures to report Betsy Roth Wojcicki

More information

Familial Cold Autoinflammatory Syndrome

Familial Cold Autoinflammatory Syndrome Familial Cold Autoinflammatory Syndrome The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases,

More information

CAPS for Ophthalmologists. Prof. Michaël Hofer Unité d immuno-allergologie et rhumatologie Unité Romande de rhumatologie pédiatrique CHUV, Lausanne

CAPS for Ophthalmologists. Prof. Michaël Hofer Unité d immuno-allergologie et rhumatologie Unité Romande de rhumatologie pédiatrique CHUV, Lausanne CAPS for Ophthalmologists Prof. Michaël Hofer Unité d immuno-allergologie et rhumatologie Unité Romande de rhumatologie pédiatrique CHUV, Lausanne A newborn with a rash Premature birth 34 weeks, hydramnion

More information

Cryopyrin Associated Periodic Syndromes (CAPS) (CINCA/Muckle Wells/FCAS)

Cryopyrin Associated Periodic Syndromes (CAPS) (CINCA/Muckle Wells/FCAS) https://www.printo.it/pediatric-rheumatology/gb/intro Cryopyrin Associated Periodic Syndromes (CAPS) (CINCA/Muckle Wells/FCAS) Version of 2016 1. WHAT IS CAPS 1.1 What is it? Cryopyrin-Associated Periodic

More information

recurrent febrile syndromes what a rheumatologist needs to know

recurrent febrile syndromes what a rheumatologist needs to know recurrent febrile syndromes what a rheumatologist needs to know Hal M. Hoffman and Anna Simon abstract rheumatologists are likely to be asked to evaluate patients with recurrent febrile syndromes, so it

More information

Clinical Policy: Canakinumab (Ilaris) Reference Number: ERX.SPA.04 Effective Date:

Clinical Policy: Canakinumab (Ilaris) Reference Number: ERX.SPA.04 Effective Date: Clinical Policy: (Ilaris) Reference Number: ERX.SPA.04 Effective Date: 04.01.17 Last Review Date: 05.18 Revision Log See Important Reminder at the end of this policy for important regulatory and legal

More information

Autoinflammatory Diseases in Pediatrics

Autoinflammatory Diseases in Pediatrics 1 2 3 4 5 Autoinflammatory Diseases in Pediatrics Q2Q3 Jonathan S. Hausmann, MD*, Fatma Dedeoglu, MD Q4 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39

More information

https://www.printo.it/pediatric-rheumatology/gb/intro Majeed Syndrome Version of 2016 1. WHAT IS MAJEED 1.1 What is it? Majeed syndrome is a rare genetic disease. Affected children suffer from Chronic

More information

MEDICAL POLICY I. POLICY POLICY TITLE POLICY NUMBER CANAKINUMAB (ILARIS ) MP-2.147

MEDICAL POLICY I. POLICY POLICY TITLE POLICY NUMBER CANAKINUMAB (ILARIS ) MP-2.147 Original Issue Date (Created): May 1, 2010 Most Recent Review Date (Revised): March 25, 2014 Effective Date: June 1, 2014 I. POLICY Preauthorization is required for injectable Canakinumab (Ilaris ): Note:

More information

Blau's Disease / Juvenile Sarcoidosis

Blau's Disease / Juvenile Sarcoidosis https://www.printo.it/pediatric-rheumatology/gb/intro Blau's Disease / Juvenile Sarcoidosis Version of 2016 1. WHAT IS BLAU S DISEASE/JUVENILE SARCOIDOSIS 1.1 What is it? Blau syndrome is a genetic disease.

More information

Rilonacept for cryopyrin associated periodic syndromes

Rilonacept for cryopyrin associated periodic syndromes Rilonacept for cryopyrin associated periodic syndromes August 2009 This technology summary is based on information available at the time of research and a limited literature search. It is not intended

More information

Autoinflammatory Syndromes

Autoinflammatory Syndromes Autoinflammatory Syndromes Philip J. Hashkes, MD, MSc a,b, *, Ori Toker, MD c KEYWORDS Autoinflammatory syndromes Periodic fever Interleukin-1 Autoinflammatory syndromes are defined as recurrent attacks

More information

TNF Receptor Associated Periodic Syndrome (TRAPS)

TNF Receptor Associated Periodic Syndrome (TRAPS) https://www.printo.it/pediatric-rheumatology/gb/intro TNF Receptor Associated Periodic Syndrome (TRAPS) Version of 2016 1. WHAT IS TRAPS 1.1 What is it? TRAPS is an inflammatory disease characterised by

More information

Mevalonate Kinase Deficiency (MKD), or Hyper IGD Syndrome

Mevalonate Kinase Deficiency (MKD), or Hyper IGD Syndrome www.printo.it/pediatric-rheumatology/gb/intro Mevalonate Kinase Deficiency (MKD), or Hyper IGD Syndrome Version of 2016 1. WHAT IS MKD 1.1 What is it? Mevalonate kinase deficiency is a genetic disease.

More information

Papa Syndrome (Piogenic Arthritis, Pioderma, Gancrenosum and Acne)

Papa Syndrome (Piogenic Arthritis, Pioderma, Gancrenosum and Acne) https://www.printo.it/pediatric-rheumatology/ie/intro Papa Syndrome (Piogenic Arthritis, Pioderma, Gancrenosum and Acne) Version of 2016 1. WHAT IS PAPA 1.1 What is it? The acronym PAPA stands for Pyogenic

More information

Autoinflammatory syndromes for the dermatologist

Autoinflammatory syndromes for the dermatologist Clinics in Dermatology (2014) 32, 488 501 Autoinflammatory syndromes for the dermatologist Paula Dávila-Seijo, MD, Angela Hernández-Martín, MD, Antonio Torrelo, MD Department of Dermatology, Hospital del

More information

Periodic Fever With Apthous Pharyngitis Adenitis (PFAPA)

Periodic Fever With Apthous Pharyngitis Adenitis (PFAPA) www.printo.it/pediatric-rheumatology/za_gb/intro Periodic Fever With Apthous Pharyngitis Adenitis (PFAPA) Version of 2016 1. WHAT IS PFAPA 1.1 What is it? PFAPA stands for Periodic Fever Adenitis Pharyngitis

More information

2017 Addenda ICD-10-CM Tabular List Musculoskeletal

2017 Addenda ICD-10-CM Tabular List Musculoskeletal 2017 enda ICD-10-CM Tabular List Musculoskeletal This chapter contains the following blocks: M04 Autoinflammatory syndromes M97 Periprosthetic fracture around internal prosthetic joint Autoinflammatory

More information

Familial Mediterranean Fever

Familial Mediterranean Fever www.printo.it/pediatric-rheumatology/gb/intro Familial Mediterranean Fever Version of 2016 1. WHAT IS FMF 1.1 What is it? Familial Mediterranean Fever (FMF) is a genetically transmitted disease. Patients

More information

2/23/18. Disclosures. Rheumatic Diseases of Childhood. Making Room for Rheumatology. I have nothing to disclose. James J.

2/23/18. Disclosures. Rheumatic Diseases of Childhood. Making Room for Rheumatology. I have nothing to disclose. James J. Making Room for Rheumatology James J. Nocton, MD Disclosures I have nothing to disclose Rheumatic Diseases of Childhood Juvenile Idiopathic Arthritis (JIA) Systemic Lupus Erythematosus (SLE) Juvenile Dermatomyositis

More information

A web-based collection of genotypephenotype associations in hereditary recurrent fevers from the Eurofever registry

A web-based collection of genotypephenotype associations in hereditary recurrent fevers from the Eurofever registry Papa et al. Orphanet Journal of Rare s (2017) 12:167 DOI 10.1186/s13023-017-0720-3 RESEARCH A web-based collection of genotypephenotype associations in hereditary recurrent fevers from the Eurofever registry

More information

LYME DISEASE Last revised May 30, 2012

LYME DISEASE Last revised May 30, 2012 Wisconsin Department of Health Services Division of Public Health Communicable Disease Surveillance Guideline LYME DISEASE Last revised May 30, 2012 I. IDENTIFICATION A. CLINICAL DESCRIPTION: A multi-systemic

More information

FAMILIAL MEDITERRANEAN FEVER (FMF) RAKAN TELFAH not MD, not PHD

FAMILIAL MEDITERRANEAN FEVER (FMF) RAKAN TELFAH not MD, not PHD FAMILIAL MEDITERRANEAN FEVER (FMF) RAKAN TELFAH not MD, not PHD FMF Is a hereditary autoinflammatory disease caused by mutations in Mediterranean fever gene (MEFV). It is inherited in an autosomal recessive

More information

Policy Number: PHA044 Effective Date: March 1, 2019

Policy Number: PHA044 Effective Date: March 1, 2019 ILARIS (CANAKINUMAB) UnitedHealthcare Commercial Medical Benefit Drug Policy Policy Number: PHA044 Effective Date: March 1, 2019 Table of Contents Page COVERAGE RATIONALE... 1 U.S. FOOD AND DRUG ADMINISTRATION

More information

The protean visage of systemic autoinflammatory syndromes: a challenge for inter-professional collaboration

The protean visage of systemic autoinflammatory syndromes: a challenge for inter-professional collaboration European Review for Medical and Pharmacological Sciences 2010; 14: 1-18 The protean visage of systemic autoinflammatory syndromes: a challenge for inter-professional collaboration D. RIGANTE Department

More information

Index. Note: Page numbers of article titles are in boldface type.

Index. Note: Page numbers of article titles are in boldface type. Note: Page numbers of article titles are in boldface type. A Abatacept for eye diseases, 817 for juvenile dermatomyositis, 894 for juvenile idiopathic arthritis, 756, 760 761 Acne, in SAPHO syndrome, 745

More information

NALP12, a gene responsible for periodic fever syndromes. Isabelle Jéru INSERM U.654, Paris, FRANCE

NALP12, a gene responsible for periodic fever syndromes. Isabelle Jéru INSERM U.654, Paris, FRANCE NALP12, a gene responsible for periodic fever syndromes Isabelle Jéru INSERM U.654, Paris, FRANCE Hereditary periodic fever syndromes (HPFs) Phenotype 6 clinical entities Fever episodes Abdominal pain

More information

Background 11/8/2011. Disclosure. Hereditary Periodic Fever Syndromes Mutations in Idiopathic Acute Recurrent Pericarditis.

Background 11/8/2011. Disclosure. Hereditary Periodic Fever Syndromes Mutations in Idiopathic Acute Recurrent Pericarditis. Mutations in Idiopathic Acute Recurrent Pericarditis Disclosure I have no relevant financial relationships to disclose Guillaume Geri, Pierre Hausfater, Catherine Dodé, Zahir Amoura, Jean-Charles Piette,

More information

See Important Reminder at the end of this policy for important regulatory and legal information.

See Important Reminder at the end of this policy for important regulatory and legal information. Clinical Policy: (Ilaris) Reference Number: CP.PHAR.246 Effective Date: 08.01.16 Last Review Date: 05.18 Line of Business: Commercial, Medicaid Revision Log See Important Reminder at the end of this policy

More information

COMMON VARIABLE IMMUNODEFICIENCY

COMMON VARIABLE IMMUNODEFICIENCY COMMON VARIABLE IMMUNODEFICIENCY This booklet is intended for use by patients and their families and should not replace advice from a clinical immunologist. 1 COMMON VARIABLE IMMUNODEFICIENCY Also available

More information

Policy Number: CS2019D0066C Effective Date: March 1, 2019

Policy Number: CS2019D0066C Effective Date: March 1, 2019 ILARIS (CANAKINUMAB) UnitedHealthcare Community Plan Medical Benefit Drug Policy Policy Number: CS2019D0066C Effective Date: March 1, 2019 Instructions for Use Table of Contents Page COVERAGE RATIONALE...

More information

Coverage Criteria: Express Scripts, Inc. monograph dated 12/15/ months or as otherwise noted by indication

Coverage Criteria: Express Scripts, Inc. monograph dated 12/15/ months or as otherwise noted by indication BENEFIT DESCRIPTION AND LIMITATIONS OF COVERAGE ITEM: PRODUCT LINES: COVERED UNDER: DESCRIPTION: CPT/HCPCS Code: Company Supplying: Setting: Kineret (anakinra subcutaneous injection) Commercial HMO/PPO/CDHP

More information

www.printo.it/pediatric-rheumatology/gb/intro Behcet s Disease Version of 2016 1. WHAT IS BEHCET S DISEASE 1.1 What is it? Behçet s syndrome, or Behçet s disease (BD), is a chronic inflammatory condition

More information

PGALS: Approach to Child with Arthritis. Prof Chris Scott Paediatric Rheumatology

PGALS: Approach to Child with Arthritis. Prof Chris Scott Paediatric Rheumatology PGALS: Approach to Child with Arthritis Prof Chris Scott Paediatric Rheumatology Introduction In a prospective study from The Royal Hospital for Sick Children, Edinburgh, every 58th child presented with

More information

YES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS

YES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS Stage I: Rule-Out Dashboard HGNC ID: 6998 OMIM ID: 134610 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? 2. Does

More information

13. Behçet s - In Children

13. Behçet s - In Children Registered Charity No: 326679 Caring for those with a rare, complex and lifelong disease www.behcets.org.uk 13. Behçet s - In Children How are children affected by Behçet s disease? Behçet s disease (also

More information

Announcing HUMIRA. Psoriasis Starter Package

Announcing HUMIRA. Psoriasis Starter Package Announcing HUMIRA (adalimumab) Psoriasis Starter Package HUMIRA is indicated for the treatment of adult patients with moderate to severe chronic plaque psoriasis who are candidates for systemic therapy

More information

The Johns Hopkins Hospital

The Johns Hopkins Hospital The Johns Hopkins Hospital 19901006 2016/03/21-04/20 (rheumatology) (emergecny medicine) (rheumatology consult team) attending Dr. Haque, R2 Dr. Michailidou, fellow Dr. Adler "She is a so interesting case.

More information

Vasculitis Update. A selective review of what s new. Dr Jonathan Akikusa MBBS FRACP

Vasculitis Update. A selective review of what s new. Dr Jonathan Akikusa MBBS FRACP Vasculitis Update A selective review of what s new Dr Jonathan Akikusa MBBS FRACP Consultant Paediatric Rheumatologist Royal Children s Hospital, Melbourne Honorary Research Fellow Murdoch Children s Research

More information

Primary Immunodeficiency

Primary Immunodeficiency Primary Immunodeficiency DiGeorge Syndrome Severe Combined Immunodeficiency SCID X-Linked Agammaglobulinemia Common variable immunodeficiency (CVID) IgA deficiency Hyper- IgM Syndrome Wiskott-Aldrich syndrome

More information

PRIMARY IMMUNODEFICIENCIES CVID MANAGEMENT CVID MANAGEMENT

PRIMARY IMMUNODEFICIENCIES CVID MANAGEMENT CVID MANAGEMENT PRIMARY IMMUNODEFICIENCIES CVID MANAGEMENT CVID MANAGEMENT 1 PRIMARY IMMUNODEFICIENCIES KEY ABBREVIATIONS CVID CT IgA IgG IgM IPOPI IVIG SCIG PID Common Variable Immune Deficiency Computerised tomography

More information

2017 Blue Cross and Blue Shield of Louisiana

2017 Blue Cross and Blue Shield of Louisiana Applies to all products administered or underwritten by Blue Cross and Blue Shield of Louisiana and its subsidiary, HMO Louisiana, Inc.(collectively referred to as the Company ), unless otherwise provided

More information

TYSABRI FOR CROHN S DISEASE

TYSABRI FOR CROHN S DISEASE TYSABRI FOR CROHN S DISEASE Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical devices

More information

FIT Board Review Corner April 2017

FIT Board Review Corner April 2017 FIT Board Review Corner April 2017 Welcome to the FIT Board Review Corner, prepared by Tammy Peng, MD, and Amar Dixit, MD, senior and junior representatives of ACAAI's Fellows-In-Training (FITs) to the

More information

Global Infectious Diseases & EpidemiOlogy Network. Bedside Patient Form

Global Infectious Diseases & EpidemiOlogy Network. Bedside Patient Form Global Infectious Diseases & EpidemiOlogy Network Bedside Patient Form Patient Name: Number: Institution: Date of report: Report submitted by: Remarks: DATA ENTRY FORM * Country of disease acquisition:

More information

PRIOR AUTHORIZATION REQUEST GUIDE

PRIOR AUTHORIZATION REQUEST GUIDE PRIOR AUTHORIZATION REQUEST GUIDE Drafting a Prior Authorization Request The following information is presented for informational purposes only and is not intended to provide reimbursement or legal advice.

More information

News Release. Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA

News Release. Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA News Release Title Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA Key Points Deficiency of IL-36 receptor antagonist (DITRA) model mice has been established. The involvement

More information

Familial Mediterranean Fever

Familial Mediterranean Fever Familial Mediterranean Fever FMF most often occurs in individuals of Mediterranean and Middle Eastern descent, and the first episodes typically begin in childhood Fast Facts FMF causes episodic fevers

More information

Familial Mediterranean Fever

Familial Mediterranean Fever https://www.printo.it/pediatric-rheumatology/gb/intro Familial Mediterranean Fever Version of 2016 2. DIAGNOSIS AND TREATMENT 2.1 How is it diagnosed? Generally the following approach is followed: Clinical

More information

Cigna Drug and Biologic Coverage Policy

Cigna Drug and Biologic Coverage Policy Cigna Drug and Biologic Coverage Policy Subject Canakinumab Table of Contents Coverage Policy... 1 General Background... 3 Coding/Billing Information... 5 References... 5 Effective Date... 7/15/2017 Next

More information

Autoinflammatory diseases and the inflammasome: mechanisms of IL-1β activation leading to neutrophil-rich skin disorders

Autoinflammatory diseases and the inflammasome: mechanisms of IL-1β activation leading to neutrophil-rich skin disorders 72 Autoinflammatory diseases and the inflammasome Special Issue Autoinflammation vs Autoimmunity Mini Review Autoinflammatory diseases and the inflammasome: mechanisms of IL-1β activation leading to neutrophil-rich

More information

1. Background: Infliximab is administered parenterally; therefore, it is not covered under retail pharmacy benefits.

1. Background: Infliximab is administered parenterally; therefore, it is not covered under retail pharmacy benefits. Subject: Infliximab (Remicade ) Original Original Committee Approval: October 13, 2006 Revised Last Committee Approval: December 3, 2008 Last Review: October 19, 2007 1. Background: Infliximab is a genetically

More information

Chronic non-bacterial Osteomyelitis/Osteitis (or CRMO)

Chronic non-bacterial Osteomyelitis/Osteitis (or CRMO) www.printo.it/pediatric-rheumatology/gb/intro Chronic non-bacterial Osteomyelitis/Osteitis (or CRMO) Version of 2016 1. WHAT IS CRMO 1.1 What is it? Chronic Recurrent Multifocal Osteomyelitis (CRMO) is

More information

Autoinflammatory Syndromes: An Overview

Autoinflammatory Syndromes: An Overview Autoinflammatory Syndromes: An Overview Dr. Elizabeth Stringer Pediatric Rheumatologist Presented at the Canadian CAPS Network Forum Fredericton, New Brunswick Sept 15, 2013 ObjecMves To have a broad understanding

More information

Arcalyst (rilonacept)

Arcalyst (rilonacept) Arcalyst (rilonacept) Policy Number: 5.02.510 Last Review: 4/2018 Origination: 06/2013 Next Review: 4/2019 Policy Blue Cross and Blue Shield of Kansas City (Blue KC) will provide coverage for Arcalyst

More information

Scope of Practice Specialist Physicians in Immunology and Allergy in Australia

Scope of Practice Specialist Physicians in Immunology and Allergy in Australia INTRODUCTION Scope of Practice The aim of this Scope of Practice is to outline the range of practice of specialist physicians in Immunology and Allergy in Australia (also known as clinical immunology/allergy

More information

Vanoni et al. Pediatric Rheumatology (2018) 16:27 https://doi.org/ /s

Vanoni et al. Pediatric Rheumatology (2018) 16:27 https://doi.org/ /s Vanoni et al. Pediatric Rheumatology (2018) 16:27 https://doi.org/10.1186/s12969-018-0246-9 RESEARCH ARTICLE An international delphi survey for the definition of the variables for the development of new

More information

KAWASAKI DISEASE. What is Kawasaki disease? Causes

KAWASAKI DISEASE. What is Kawasaki disease? Causes What is Kawasaki disease? Kawasaki disease is a form of vasculitis a family of rare disorders characterized by inflammation of the blood vessels, which can restrict blood flow and damage vital organs and

More information

Kawasaki Disease. 1:45 2:30 p.m. James Nocton, MD Benjamin Goot, MD. Children s Specialty Group. All rights reserved.

Kawasaki Disease. 1:45 2:30 p.m. James Nocton, MD Benjamin Goot, MD. Children s Specialty Group. All rights reserved. Kawasaki Disease 1:45 2:30 p.m. James Nocton, MD Benjamin Goot, MD Disclosures We have no relevant financial relationships to disclose. Objectives Describe the characteristic signs and symptoms of Kawasaki

More information

Familial Mediterranean Fever. By:Ismaeel Qattam

Familial Mediterranean Fever. By:Ismaeel Qattam Familial Mediterranean Fever By:Ismaeel Qattam FMF : It s characterized by auto inflammatory condition that causes recurrent fevers and painful inflammation of the abdomen, lungs, joints, etc. It s an

More information

London, 1 June 2006 Product name: REMICADE Procedure number: Remicade-H-240-II-73-AR SCIENTIFIC DISCUSSION 1/8

London, 1 June 2006 Product name: REMICADE Procedure number: Remicade-H-240-II-73-AR SCIENTIFIC DISCUSSION 1/8 London, 1 June 2006 Product name: REMICADE Procedure number: Remicade-H-240-II-73-AR SCIENTIFIC DISCUSSION 1/8 1. Introduction Infliximab is a chimeric human-murine IgG1κ monoclonal antibody, which binds

More information

What prescribers need to know

What prescribers need to know HUMIRA Citrate-free presentations in an Electronic Medical Record (EMR) What prescribers need to know 2 / This is your guide to identifying HUMIRA Citrate-free presentations in your Electronic Medical

More information

COMMITTEE FOR MEDICINAL PRODUCTS FOR HUMAN USE (CHMP)

COMMITTEE FOR MEDICINAL PRODUCTS FOR HUMAN USE (CHMP) European Medicines Agency London, 22 February 2007 Doc. Ref. CPMP/EWP/2284/99 Rev. 1 COMMITTEE FOR MEDICINAL PRODUCTS FOR HUMAN USE (CHMP) DRAFT GUIDELINE ON THE DEVELOPMENT OF NEW MEDICINAL PRODUCTS FOR

More information

Drafting a Coverage Authorization Request Letter

Drafting a Coverage Authorization Request Letter Drafting a Coverage Authorization Request Letter The following information is presented for informational purposes only and is not intended to provide reimbursement or legal advice. Laws, regulations,

More information

Lessons learned from CAPS: Genes, pathways and clinical care

Lessons learned from CAPS: Genes, pathways and clinical care Exon 3 NACHT - domain Q703K G755R 398 11 12 G307V A439V F309S F443L S710C G755A 13 14 PYR NACHT Y141Y D310D H458H R168Q E311K C461C I172T P315L H463H S196N G326E I480F V198M S331R R488K T219T P340P A495V

More information

AUTOIMMUNE DISORDERS IN THE ACUTE SETTING

AUTOIMMUNE DISORDERS IN THE ACUTE SETTING AUTOIMMUNE DISORDERS IN THE ACUTE SETTING Diagnosis and Treatment Goals Aimee Borazanci, MD BNI Neuroimmunology Objectives Give an update on the causes for admission, clinical features, and outcomes of

More information

HYPER IgM SYNDROME This booklet is intended for use by patients and their families and should not replace advice from a clinical immunologist.

HYPER IgM SYNDROME This booklet is intended for use by patients and their families and should not replace advice from a clinical immunologist. HYPER IgM SYNDROME This booklet is intended for use by patients and their families and should not replace advice from a clinical immunologist. 1 HYPER IgM SYNDROME Also available : COMMON VARIABLE IMMUNODEFICIENCY

More information

The EU PIP - a step in Pediatric Drug Development. Thomas Severin Bonn,

The EU PIP - a step in Pediatric Drug Development. Thomas Severin Bonn, The EU PIP - a step in Pediatric Drug Development Thomas Severin Bonn, 13.01.2009 Agenda Implications for Industry Company Preparation Time of PIP Submission Content of the PIP The PIP Process and first

More information

Opinion 5 February 2014

Opinion 5 February 2014 The legally binding text is the original French version TRANSPARENCY COMMITTEE Opinion 5 February 2014 ILARIS 150 mg, powder for solution for injection B/1 bottle (CIP: 34 009 397 457-6 3) ILARIS 150 mg,

More information

DRAFT. Remission rates, calculated using observed case (OC) analyses were as follows: Year 1 Year 2 Year 3 Year 4 All patients 62.

DRAFT. Remission rates, calculated using observed case (OC) analyses were as follows: Year 1 Year 2 Year 3 Year 4 All patients 62. DRAFT New Efficacy Data Shows Cimzia (certolizumab pegol) Provides Long-Term Remission of Moderate to Severe Crohn s Disease Regardless of Prior Anti-TNF Exposure, According to Data Presented at DDW Oral

More information

Autoinflammatory Diseases Periodic Fever Syndromes Athens, April 30th 2010 Tim Niehues MD

Autoinflammatory Diseases Periodic Fever Syndromes Athens, April 30th 2010 Tim Niehues MD Autoinflammatory Disease and Periodic Fever Syndromes Definitions Molecular Pathology and Classification Phenotype Challenges Autoinflammatory Diseases Periodic Fever Syndromes Athens, April 30th 2010

More information

Validation of A Diagnostic Score For Molecular Analysis of Hereditary Auto inflammatory Syndromes With Periodic Fever.

Validation of A Diagnostic Score For Molecular Analysis of Hereditary Auto inflammatory Syndromes With Periodic Fever. Validation of A Diagnostic Score For Molecular Analysis of Hereditary Auto inflammatory Syndromes With Periodic Fever. Silvia Federici 2 Division of Pediatrics, G. Gaslini Institute, Genoa, ITALY Rome,

More information

SHARED CARE PRESCRIBING GUIDELINE

SHARED CARE PRESCRIBING GUIDELINE WORKING IN PARTNERSHIP East Surrey CCG, Guildford & Waverley CCG, North West Surrey CCG, Surrey Downs CCG, Surrey Heath CCG, North East Hampshire & Farnham CCG, Crawley CCG, Horsham & Mid-Sussex CCG SHARED

More information

Case Report A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

Case Report A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab Case Reports in Rheumatology Volume 2013, Article ID 795027, 4 pages http://dx.doi.org/10.1155/2013/795027 Case Report A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

More information

HREC/17/RCHM/334 RCH HREC 37278A. ANZ CLARITY Establishment of a National Juvenile Idiopathic Arthritis Biobank.

HREC/17/RCHM/334 RCH HREC 37278A. ANZ CLARITY Establishment of a National Juvenile Idiopathic Arthritis Biobank. HREC Project Number: Research Project Title: Principal Researchers: HREC/17/RCHM/334 RCH HREC 37278A ANZ CLARITY Establishment of a National Juvenile Idiopathic Arthritis Biobank. Associate Professor Justine

More information

Caseous Granuloma: Tuberculosis or Chronic Recurrent Multifocal Osteomyelitis?

Caseous Granuloma: Tuberculosis or Chronic Recurrent Multifocal Osteomyelitis? Case Report Iran J Pediatr Dec 2014; Vol 24 (No 6), Pp: 770-774 Caseous Granuloma: Tuberculosis or Chronic Recurrent Multifocal Osteomyelitis? Raheleh Assari 1, MD; Vahid Ziaee* 2,3, MD; Zahra Ahmadinejad

More information

London, 24 January 2000 EMEA/1952/00

London, 24 January 2000 EMEA/1952/00 The European Agency for the Evaluation of Medicinal Products Evaluation of Medicines for Human Use London, 24 January 2000 EMEA/1952/00 EMEA PUBLIC STATEMENT ON ABACAVIR (Ziagen) IMPORTANT SAFETY INFORMATION

More information

Luke Droney IMMUNOGLOBULIN LEVELS AND FUNCTION

Luke Droney IMMUNOGLOBULIN LEVELS AND FUNCTION IMMUNOGLOBULIN LEVELS AND FUNCTION Interpret changes in immunoglobulin levels within the clinical context including - Immunodeficiency - Disorders characterised by hypergammaglobulinaemia, rheumatoid arthritis,

More information

Authorization and appeals kit: Psoriatic arthritis

Authorization and appeals kit: Psoriatic arthritis 1 Authorization and appeals kit: Psoriatic arthritis Resources for healthcare providers INDICATIONS COSENTYX is indicated for the treatment of moderate to severe plaque psoriasis in adult patients who

More information

WARNING: RISK OF SERIOUS INFECTIONS

WARNING: RISK OF SERIOUS INFECTIONS RA PROGRESSION INTERRUPTED 1 DOSAGE AND ADMINISTRATION GUIDE No structural damage progression was observed at week 52 in 55.6% and in 47.8% of patients receiving KEVZARA 200 mg + MTX or 150 mg + MTX, compared

More information

Authorization and appeals kit: Moderate to severe plaque psoriasis coexisting with psoriatic arthritis

Authorization and appeals kit: Moderate to severe plaque psoriasis coexisting with psoriatic arthritis Authorization and appeals kit: Moderate to severe plaque psoriasis coexisting with psoriatic arthritis Resources for healthcare providers INDICATIONS COSENTYX is indicated for the treatment of moderate

More information

A heterogeneous collection of diseases characterised by hypogammaglobulinemia.

A heterogeneous collection of diseases characterised by hypogammaglobulinemia. 1 Common variable immunodeficiency () A heterogeneous collection of diseases characterised by hypogammaglobulinemia. Although is the most common primary immune deficiency (PID) symptomatic in adults, it

More information

Tumor Necrosis Factor-alpha Antagonists in the Treatment of Secondary Amyloidosis. Gulen Hatemi Istanbul University

Tumor Necrosis Factor-alpha Antagonists in the Treatment of Secondary Amyloidosis. Gulen Hatemi Istanbul University Tumor Necrosis Factor-alpha Antagonists in the Treatment of Secondary Amyloidosis Gulen Hatemi Istanbul University TNF-alpha blockage in AA amyloidosis TNF induces SAA production in hepatocytes during

More information

NEW CONCEPTS IN CROHN S DISEASE GLENDON BURRESS, MD PEDIATRIC GASTROENTEROLOGY ROCKFORD, IL

NEW CONCEPTS IN CROHN S DISEASE GLENDON BURRESS, MD PEDIATRIC GASTROENTEROLOGY ROCKFORD, IL NEW CONCEPTS IN CROHN S DISEASE GLENDON BURRESS, MD PEDIATRIC GASTROENTEROLOGY ROCKFORD, IL CROHN S DISEASE Chronic disease of uncertain etiology Etiology- genetic, environmental, and infectious Transmural

More information

Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome

Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome Acta Pædiatrica ISSN 0803-5253 REVIEW ARTICLE Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome Per Wekell (per.wekell@vgregion.se)

More information

CHECK LIST FORM-MONTH 27 (Please note Month 27 is from enrolment not randomisation)

CHECK LIST FORM-MONTH 27 (Please note Month 27 is from enrolment not randomisation) CHECK LIST FORM-MONTH 27 (Please note Month 27 is from enrolment not randomisation) Participant Initials: Date of Birth: Were the following forms completed for this visit? Follow Up Form Done t Done BVASWG

More information

Secretary's Advisory Committee on Heritable Disorders in Newborns and Children May 13, 2009

Secretary's Advisory Committee on Heritable Disorders in Newborns and Children May 13, 2009 Secretary's Advisory Committee on Heritable Disorders in Newborns and Children May 13, 2009 R. Rodney Howell Genetic Alliance Posted in the Resource Repository at: http://www.resourcerepository.org/documents/658/secretary'sadvisorycommitteeonh

More information

1.0 Abstract. Title. Keywords. Rationale and Background

1.0 Abstract. Title. Keywords. Rationale and Background 1.0 Abstract Title A Prospective, Multi-Center Study in Rheumatoid Arthritis Patients on Adalimumab to Evaluate its Effect on Synovitis Using Ultrasonography in an Egyptian Population Keywords Synovitis

More information

A clinical review of 105 patients with PFAPA (a periodic fever syndrome)

A clinical review of 105 patients with PFAPA (a periodic fever syndrome) Acta Pædiatrica ISSN 0803 5253 REVIEW ARTICLE A clinical review of 105 patients with PFAPA (a periodic fever syndrome) HM Feder (feder@nso2.uchc.edu) 1,2, JC Salazar 2,3 1.Division of Pediatric Infectious

More information

Prescribing Framework for Methotrexate for Immunosuppression in ADULTS

Prescribing Framework for Methotrexate for Immunosuppression in ADULTS Hull & East Riding Prescribing Committee Prescribing Framework for Methotrexate for Immunosuppression in ADULTS Patient s Name:.. NHS Number: Patient s Address:... (Use addressograph sticker) GP s Name:...

More information

CPC. Chutika Srisuttiyakorn, M.D. Kobkul Aunhachoke, M.D. Phramongkutklao Hospital Bangkok, Thailand

CPC. Chutika Srisuttiyakorn, M.D. Kobkul Aunhachoke, M.D. Phramongkutklao Hospital Bangkok, Thailand CPC Chutika Srisuttiyakorn, M.D. Kobkul Aunhachoke, M.D. Phramongkutklao Hospital Bangkok, Thailand A 53 year-old woman with fever, facial swelling and rashes on face, trunk and upper extremities for 3

More information