General Public

 

Information on TRAPS:

  • What is TRAPS?
    UK FR IT GER
  • Why a patient registry?
    UK FR IT GER
  • What can I expect from this research protocol?
    UK FR IT GER

 

Actions of communication

• Presentations at meetings:

  • July 5th, 2011: Abstract of the The second national FMF, autoinflammatory diseases and amyloidosis meeting, , Tel Hashomer (Israel): Quality assurance in genetic testing of hereditary periodic fevers (HRFs): Genotyping and beyond. Y. Shinar, I. Aksentijevich, J. Arostegui, I. Touitou.

  • May 25-28, 2011: Presentation at EULAR 2011, London (United Kingdom). The Eurofever registry for Autoinflammatory disease: results of the first 15 months of enrolment. By partner 5.

  • May 15-18, 2011: The 13th TNF International Conference (TNF 2011), Hyogo (Japan): Tumour Necrosis Factor Associated Periodic Syndrome (TRAPS) is associated with unprovoked sustained high levels of proinflammatory cytokines in ex vivo and in vitro models. Azad M Aziz, Laura J Dickie, Dennis McGonagle, Philip Robinson and Michael F McDermott. By partner 3.

  • 2010: Chapter in the book: Clinical Genomics: Practical Applications in Adult Patient Care, McGraw Hill Publishers and the American College of Physicians editors: Familial autoinflammatory diseases. By partner 1.

  • December 4-5, 2010: Presentation at the Golden Helix Symposium, Genetic Analysis in Translational Medicine, Athens (Greece): Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: Is it relevant for hereditary recurrent fever genes? By partner 1.

  • December 1-3, 2010: Poster presentation at the 5th European workshop on immune-mediated inflammatory diseases, Sitges (Spain). Myeloid cell subsets dynamic during progression of mouse collagen-induced arthritis. Presumey J., Jorgensen C., Courties G., Apparailly F. By partner 2.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): Quantitative PCR High-Resolution Melting (qPCR-HRM) for Hereditary Recurrent Fever Genes: Is It Relevant to Screen Both Punctual Mutations and Large Rearrangements? By partner 1.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): Infevers and ISSAID: Gateway and tools for clinicians and scientists working on FMF and other Autoinflammatory Diseases. By partner 1.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): A novel TNFR1 spliced transcript translated by an internal initiation codon induces NF-kB pathways : Implication in TNF receptor associated periodic syndrome (TRAPS)? By partner 1.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): The TNFRSF1A polymorphism c.473-33C>T (rs1800692) in intron 4, and its influence on gene expression. By partner 1.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): The Eurofever/Eurotraps registry: results of the first 6 months of enrolment. By all Eurotraps partner.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): A mutation in more than one Inherited Periodic Fever Syndrome gene is associated with greater prevalence of AA amyloidosis. Jethwa H, Rowczenio DM, Russell T, Trojer H, Loeffler J, Hawkins PN, Lachmann HJ. By partner 4.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): AA Amyloidosis Complicating the Inherited Periodic Fever Syndromes. Lane T, Rowczenio DM, Russell T, Trojer H, Gillmore JD, Wechalekar A, Hawkins PN, Lachmann HJ. By partner 4.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): Experience with anakinra in 120 patients with systemic autoinflammatory diseases. Melo Gomes S, Loeffler J, Rowczenio D, Trojer H, Russell T, Rannigan L, Lane T, Woo P, Brogan P, Hawkins PN, Lachmann HJ. By partner 4.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): Anakinra for the treatment of TNF Receptor Associated Periodic Syndrome. Melo Gomes S, Loeffler J, Rowczenio D, Trojer H, Russell T, Drewe E, McDermott E, Rannigan L, Lane T, Woo P, Brogan P, Hawkins PN, Lachmann HJ. By partner 4.

  • September 2-6, 2010: Presentation at the 6th International conference on Autoinflammatory disease, Amsterdam (The Netherlands): Characterisation of the genes associated with hereditary periodic fevers syndromes in patients with AA amyloidosis of undetermined aetiology. Rowczenio DM, Russell TL, Trojer H, Bybee A, Hawkins PN, Lachmann HJ. By partner 4.

  • August 27, 2010: MicroRNAs in RA: Novel track for biomarkers and innovative drug discovery, 1st UCL symposium of translational research in rheumatology Bruxelles (Belgium). By partner 2.

  • June 22, 2010: MicroRNAs as novel blood-based prognostic and diagnostic biomarkers for treatment outcome, Sanofi meeting « focus on miRNA », Montpellier (France). By partner 2.

  • June 4-5, 2010: MicroRNAs, novel serum-based biomarkers in rheumatoid arthritis, Annual meeting South rheumatology MTM, Montpellier (France). By partner 2.

  • June 13-15, 2010: Poster presentations at the French society on gene and cell therapy (Paris): A liposome-based vehicle for preferential targeting of the mononuclear phagocyte system in arthritic mice. G Courties, J Presumey, V Escriou, D Scherman, C Jorgensen and F Apparailly. By partner 2.

  • March 19-20, 2010: New Breakthroughs in Systemic IL-1β–Driven Autoinflammatory Diseases’, Berlin (Germany): Auto-inflammatory diseases Update on Genetics: advances in diagnostics. By partner 1.

  • March 4-6, 2010: Poster presentation at the EWRR (European Workshop of Rheumatology Research), Bamberg (Germany); A liposome-based vehicle for preferential targeting of the mononuclear phagocyte system in arthritic mice. G Courties, J Presumey, V Escriou, D Scherman, C Jorgensen and F Apparailly. By partner 2.

  • January 14, 2010: Oral presentation at the French evaluation committee AERES, Montpellier (France).

  • November 27, 2009: Seminar UK primary immunodeficiency network annual meeting given by partner 4.

  • November 20, 2009: Memorial Lecture – 20Th Graham Watson Study Day (UK paediatric meeting) given by partner 4.

  • November 18 2009: Lecture Wessex Regional Rheumatology meeting given by partner 4.

  • October, 2009: Building a registry for the Autoinflammatory diseases in childhood (The Eurofevers project). These results has been presented by partner 5 at the EULAR Meeting, Copenhagen, June 2009
    and 75TH ACR meeting, Philadelpia, October 2009. Ann Rheum Dis 2009;68(Suppl3):508. By partner 5.

  • September 11, 2009: Partner 6 organized a meeting with doctors and patients of the Italian Association for Periodic Fevers, Giardini Naxos (Italy).

  • September 4-5, 2009: Séminaire maladies autoinflammatoires pratiques pour les francophones, Montpellier (France) : "Diagnostic génétique, pour qui, pourquoi, comment? By partner 1.

  • July 24, 2009: Lecture UK Summer Allergy School given by partner 4.

  • July 9, 2009: Plenary Lecture Third Kidney and Collagen Disease Conference given by partner 4.

  • June 29, 2009: The first year meeting (article in French) of the EUROTRAPS project was held in Montpellier.

  • June 10-13, 2009: Annual European Congress of Rheumatology EULAR 2009, Copenhagen (Denmark); The clinical spectrum of 20 children with the R92Q (TRAPS) mutation. By parter 1.

  • May 23-26, 2009: European Human Genetics Conference 2009, Vienna (Austria); High throughput, complete genotyping of the TNFRSF1A gene; Shira Lezer, Aline Yakir, Nir Navot.

  • May 15, 2009: A meeting of the SOFREMIP was held in Paris (France). The program included a session by the French Reference Center for Auto-Inflammatory diseases (CeRéMAI). The EUROTRAPS project, and its connection with the Eurofevers project was presented (in French) by the coordinator (Pr I Touitou).

  • April 26-29, 2009: 12th International TNF Conference, San Lorenzo de El Escorial, Madrid (Spain); Functional consequences of mutations in TNFRSF1A, comparison of in vitro cellular events to findings from tissue samples isolated from patients with tumour necrosis factor receptor-associated periodic syndrome (TRAPS); Azad M. Aziz, Laura J. Dickie, Paul Emery, Sinisa Savic, Michael F. McDermott.

  • March 31, 2009: Presentation at the Eurofever meeting , Camoglie (Italy): Definitions and policy for genetic analysis. By partner 1 and 5.

  • January 16, 2009: National meeting for pediatric rheumatologists to coordinate registration of patients with periodic fever syndromes in Germany,  in Essen.

  • November 24-25, 2008: The 2nd RIMO meeting, Montpellier (France); Presentation (in English) of the Eurotraps project; Pr I Touitou.

  • October 10, 2008: National meeting for pediatric rheumatologists to coordinate registration of patients with periodic fever syndromes in Germany, Würzburg on the annual meeting of the German Society of Pediatric Rheumatology (Gesellschaft für Kinder- und Jugendrheumatologie, GKJR)

  • September 10, 2008: The Orpheme pole of competitivity, Lançon de Provence (France); Presentation (in French) of the EUROTRAPS project; Pr I Touitou.

  • September, 2008:
    - Different pattern of synthesis and secretion of IL-1beta in patients with CIAS-1 and TNFRSF1A mutations responding to IL-1 blockade.
    - Prevalence of monogenic autoinflammatory diseases among Pediatric Rheumatology centers: the Eurofever PReS/PRINTO survey. This work was presented by partner 5 at 15th Paediatric Rheumatology European Society (PreS) Congress, London September 2008. Pediatric Rheumatology 2008, 6(Suppl 1):P212.

  • June 5-6, 2008: Workshop on Biotechnologies of Heath, Brussels; Presentation (in French) of the EUROTRAPS project; Pr I Touitou.

  • June 2, 2008: A meeting with patients was held in Versailles (France) by the French Reference Center for Auto-Inflammatory diseases (CeRéMAI). The EUROTRAPS project, and its connection with the Eurofevers project was presented (in French) by the coordinator (Pr I Touitou).

 

• Project publications

  • Touitou I, Dodé C, Jéru I, Cuisset L, Réseau national pour le diagnostic génétique des maladies auto-inflammatoires GenMAI.
    Genetic diagnosis of auto-inflammatory diseases: Indications and interpretation.
    j.monrhu.2011.09.002 (In press)

  • Savic S, Dickie LJ, Battellino M, McDermott MF.
    Familial Mediterranean fever and related periodic fever syndromes/auto-inflammatory diseases
    Current opinion in rhumatology. (In Press)

  • Quillinan N, Mannion G, Mohammad A, Coughlan R, Dickie LJ, McDermott MF, McGonagle D.
    Failure of sustained response to etanercept and refractoriness to anakinra in patients with T50M TNF-receptor-associated periodic syndrome.
    Ann Rheum Dis. 2011 Sep;70(9):1692-3. (PubMed)

  • Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Koné-Paut I; EUROFEVER and EUROTRAPS networks.
    A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
    Ann Rheum Dis. 2011 Feb;70(2):309-14. (PubMed)

  • Wittmann M, Kingsbury SR, McDermott MF.
    Is caspase 1 central to activation of interleukin-1?
    Joint Bone Spine. 2011 Jul;78(4):327-30. (PubMed)

  • Nedjai B, Hitman GA, Church LD, Minden K, Whiteford ML, McKee S, Stjernberg S, Pettersson T, Ranki A, Hawkins PN, Arkwright PD, McDermott MF, Turner MD.
    Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients.
    Cell Immunol. 2011;268(2):55-9. (PubMed)

  • Shaw PJ, McDermott MF, Kanneganti TD.
    Inflammasomes and autoimmunity.
    Trends Mol Med. 2011 Feb;17(2):57-64. (PubMed)

  • Courties G, Presumey J, Escriou V, Scherman C, Jorgensen C and Apparailly F.
    A liposome-based vehicle for preferential targeting of the mononuclear phagocyte system in arthritic mice.
    Annals Rheum Dis 2010 vol 69: A60 (Abstract)

  • Presumey J, Jorgensen C, Courties G, and Apparailly F.
    Myeloid cell subsets dynamic during progression of mouse collagen-induced arthritis.
    Ann Rheum Dis 2011;70:A40-A41.

  • Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, Calcagno G, Tommasini A, Bossi G, Sormani MP, Caroli F, Plebani A, Ceccherini I, Martini A, Gattorno M.
    Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.
    Arthritis Rheum. 2011 Apr;63(4):1141-50. (PubMed)

  • Duroux-Richard I, Jorgensen C, Apparailly F.
    What do microRNAs mean for rheumatoid arthritis?
    Arthritis Rheum. 2011 Aug 26. (PubMed)

  • Borghini S, Fiore M, Di Duca M, Caroli F, Finetti M, Santamaria G, Ferlito F, Bua F, Picco P, Obici L, Martini A, Gattorno M, Ceccherini I.
    Candidate Genes in Patients with Autoinflammatory Syndrome Resembling Tumor Necrosis Factor Receptor-associated Periodic Syndrome Without Mutations in the TNFRSF1A Gene.
    J Rheumatol. 2011 Apr 1. (PubMed)

  • Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I. Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
    PLoS One. 2010 Nov 23;5(11):e14096. (PubMed)

  • Presumey J, Jorgensen C, Courties G, and Apparailly F.
    Myeloid cell subsets dynamic during progression of mouse collagen-induced arthritis.
    J Transl Med. 2010; 8(Suppl 1): P54.

  • Touitou I , Grandemange S.
    Advances in the genetics of auto-inflammatory diseases.
    Revue du Rhumatisme Monographies.Volume 77, Issue 4, August 2010, Pages 300-306

  • Cook GP, Savic S, Wittmann M, McDermott MF.
    The NLRP3 inflammasome, a target for therapy in diverse disease states.
    Eur. J. Immunol., 2010. (PubMed)

  • Dickie LJ, Savic S, Aziz A, Sprakes MS, McDermott MF.
    Periodic fever syndrome and autoinflammatory diseases.
    F1000 Reports  2:3, 2010. (PubMed)

  • Aziz A, Wong CH, Emery P, McDermott MF.
    Comparison of auto-inflammation and autoimmunity using TRAPS and Rheumatoid Arthritis as prototypes of these conditions.
    Int J Clin Rheumatol 4: 681-695, 2009

  • Obici  & al.
    Susceptiblity to AA amyloidosis in rheumatic diseases: a critical overview.
    Arthritis Rheum., 2009. (PubMed)

  • Touitou & al.
    An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
    Eur J Hum Genet., 2009. (PubMed)

  • Touitou & al.
    Web resources for rare auto-inflammatory diseases: towards a common patient registry. Rheumatology, 2009. (PubMed)

  • McGonagle D, Aziz A, Dickie LJ, McDermott MF.
    An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum. Pediatric Research,  2009. (PubMed)

  • Announce of the EUROTRAPS project (in French) in the CHRU newsletter Objectif Lettre n°217 of July, 2009, by J.Millot-Keurinck.

  • Announce of the EUROTRAPS project (in German) in the newsletter of the German Society of Rheumatology (Deutsche Gesellschaft für Rheumatologie, DGRh), N° Q4, 10/2008; with a reminder linked to this article in N° Q2, 06/2009.

  • Announce of the EUROTRAPS project (in German) in the newsletter of the German Society of Pediatric Rheumatology (GKJR), N° 7, 06/ 2008, and a reminder to this correspondent article in N° 8, 06/2009.

 

Websites

 

Reports on the project

D2.1 Definition of a uniform questionnaire for the creation of a European registry of paediatric and adult TRAPS patients
D3.1 Development of an EQA/PT scheme for TRAPS molecular screening
D7.1 A liposome­based system targeting human monocytes
D3.2 Elaboration of a diagnostic score for TRAPS in childhood
D3.3 Identification of new TRAPS mediated pathways
D2.4 Definition of a set of features specific to children
D4.2 Development of agreed treatment protocols Humanized model of activated TRAPS
D5.1 amyloidosis in TRAPS
D4.3 Genetic signature associated with response to treatment identified
D3.4 Identification of new TRAPS candidate genes
D4.4 Development of validated  of outcome/efficacy measurements
D4.5 Cost benefit analysis of available treatment types evaluated
D6.2 Advances in the pathophysiology of TRAPS
D5.2 Development of a scoring risk for development of amyloidosis
D2.5 Assessment of TRAPS patients' quality of life and socio­economic impact of the disease
D3.5 Dissemination of EQA/PT results and recommendations for molecular diagnosis of TRAPS