INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
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1 CATALYZING NEW THERAPEUTIC APPROACHES 4 TH INTERNATIONAL SYMPOSIUM ON UREA CYCLE DISORDERS 1-2 SEPTEMBER 2013 BARCELONA, SPAIN INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
2 FROM THE ORGANIZERS On behalf of the Symposium Organizing Commi ee, the Urea Cycle Disorders Consor um (UCDC), the European Registry and Network for Intoxica on Type Metabolic Diseases (E IMD), and the Na onal Urea Cycle Disorders Founda on (NUCDF), we invite you to par cipate in the 4 th Interna onal Symposium on Urea Cycle Disorders to be held 1 2 September 2013 as a satellite mee ng of the 12 th Interna onal Congress of Inborn Errors of Metabolism in Barcelona, Spain. We are excited to be hos ng this forth satellite mee ng of its kind. The first interna onal satellite on urea cycle disorders was held in Vienna, Austria in 1997, the second in Brisbane, Australia in 2003, and the third in LaJolla (San Diego), U.S.A. in 2009 a rac ng more than 200 par cipants from around the world. We are planning for even greater par cipa on in The proceedings of these mee ngs formed a founda on for improved understanding of urea cycle disorders, as well as a basis for advancing research. Our vision for this fourth satellite symposium is to con nue the tradi on, having it serve as a catalyst for innova ve collabora ons and to provide s mula on for focused research over the coming years leading to new therapeu c approaches. Trainees are welcome and encouraged to a end the symposium to expand their network of UCD experts, to supplement their training, and to share their work with the UCD community. The symposium will open with a welcome recep on on the evening of Sunday, 1 September giving par cipants me to review posters submi ed by trainees, catch up with old friends and colleagues, and establish new rela onships. We have an outstanding scien fic program planned for Monday, 2 September to spotlight the most recent research findings in basic, transla onal and therapeu c inves ga ons for urea cycle disorders. The day will be divided into four sessions: 1) pathophysiological insights sugges ng novel therapeu c approaches, 2) early detec on and new treatment principles, 3) natural history studies around the world with focus on differences, and 4) clinical themes and pa ent outcomes. Posters will be presented during the lunch break, giving trainees another opportunity to share with each other and with senior inves gators and to receive feedback. The proceedings will be published. We are delighted to be hos ng the symposium in Barcelona and at La Caixa Forum. We hope that you will par cipate in this interna onal effort to catalyze new therapeu c approaches for urea cycle disorder and to further research to save and improve the lives of affected children and adults who look to us for hope for the future. We look forward to seeing you in Barcelona. Marshall Summar, M.D. (UCDC) and Stefan Kölker, M.D. (E IMD) Symposium Co Chairs
3 ABOUT THE SYMPOSIUM ImportantDates Registra onopensfor4thinterna onalsymposiumonureacycle 1April2013 Callforabstractsopens 1April2013 Applica onperiodforregistra onfeewaiversopens 1April2013 Deadlineforabstractsubmissions 9May2013(midnightGMT) Deadlineforregistra onfeewaiverapplica ons 9May2013(midnightGMT) Deadlineforearlybirdregistra on 31July2013 Registra ondeadline 31August2013 Welcomerecep onforucdsymposiuma endees 1September2013 4thInterna onalsymposiumonureacycledisorders 2September thInterna onalcongressoninbornerrorsofmetabolism 3 9September2013 Mee ngvenue LaCaixaForum Av.deFrancescFerreriGuàrdia, Barcelona Phone: Website:h p://obrasocial.lacaixa.es/ nuestroscentros/english/caixaforumbarcelona/ caixaforumbarcelona_en.html LaCaixaForum,asocialandculturalcenter,withex hibi ons,contemporaryart,music,andconferences ishousedinoneofbarcelona'schiefart Nouveau buildingsthatstandsasauniqueexampleofcatalan industrialarchitectureoftheearlytwen ethcentury. ThebuildingwasdesignedbyJosepPuigiCadafalch andcompletedin1911.itfirstoperatedasaspinning millandtex lefactorybutcloseddownjustseven yearsa eritsopening.itwaspressedintoserviceas awarehouseduringthebarcelonaworldfairof1929, andin1940itwasconvertedintostablesandgarages forthena onalpoliceforce. ItwaspurchasedbythebankLaCaixain1963and restoredtoitsformergloryforthe1992olympic GamesandthentothehomeofoneofSpain'sgreat estcollec onsofmodernart,withover700exhibits spreadthroughoutthemed,temporaryexhibi ons. Awardedin1912withtheCityCouncil sprizeforthe bestindustrialbuilding,itwasdeclaredahistorical Ar s cmonumentin1976. LaCaixaForum,Barcelona.PhotoprovidedbyCaixaForum. ItislocatedintheMontjuicareaofBarcelona.Mont juicisashortmetroridefromtheheartofbarcelona andishometosomeofthecity'smostexci ngmuse ums,includingthemiròfounda onandpoblees panyol,afull sizespanishmodelvillage.it'salsothe homeoftheolympicstadiumandmontjuicpalace.
4 ABOUT THE SYMPOSIUM Program Lecture Title/Event Summary Speaker Sunday, September 1, :00-20:00 Welcome Reception for International Symposium on UCD (with poster session) Monday, September 2, :00- Meet the Professor Breakfast 8:00 Session 1: Pathophysiological Insights Suggesting Novel Therapeutic Approaches (Moderators: Matthias Baumgartner and Uta Lichter-Konecki) 08:00 Welcome Welcome, introductions, plan for the day Matthias Baumgartner, University Children s Hospital, Zurich (Switzerland) & Uta Lichter-Konecki, Children s National Medical Center, Washington DC (USA) 08:15 Ammonia & Glutamine Metabolism in Brain Latest understanding of mechanisms leading to NH3 and glutamine toxicity in brain Roger Butterworth, University of Montreal (Canada) 08:45 The Pathophysiology of ASA and New Therapeutic Approaches to ASA 09:15 The Impact of Novel Discoveries on Urea Cycle Disorders 09:45 Break Understanding the pathophysiology of ASA points to new, easily available therapeutics How should the new knowledge about CPSI and P5CS affect our thinking about UCDs? Sandesh C.S. Nagamani, Baylor College of Medicine, Houston (USA) Vicente Rubio, Instituto De Biomedicina De Valencia (Spain) Session 2: Early Detection and New Treatment Principles (Moderators: Johannes Häberle and Shawn McCandless) 10:00 Progress in Newborn Screening for Proximal Urea Cycle Disorders 10:30 Enzyme Replacement Therapies for UCD (Liver/ Liver Cell / Stem Cell Transplantation) 11:00 Gene Therapy in OTC: Australian & U.S. Experience 11:30 In Vivo Genome Editing with Zinc Finger Nucleases 12:00 Lunch Break and Poster Session Development of markers that enable newborn screening for OTC and CPSI How do non-conventional transplant approached compare to liver transplant? Are AAV vector based approaches ready for prime time? Does editing offer a safe and permanent solution to traditional gene replacement strategies? Dietrich Matern, Mayo Clinic, Minneapolis (USA) Pat McKiernan, Birmingham Children s Hospital (UK) Ian Alexander, The Children s Hospital at Westmead (Australia) Philip Gregory, Sangamo Bio Sciences Inc., Richmond, California (USA) Session 3: Longitudinal Studies Around the World with Focus on Differences (Moderators: Cynthia LeMons and Stephen Cederbaum) 13:00 Long-Term Outcome and Intervention of Urea Cycle Disorders in Japan 13:30 E-IMD: Expanding the Network and the Disease Panel 14:00 Longitudinal Study and the Urea Cycle Disorders Consortium Investigation of clinical symptoms, treatment, prognosis of 177 patients with UCDs treated from 1999 to 2009 Report from the European Registry and Network for Intoxication Type Metabolic Diseases More than seven years of data from the natural history, longitudinal study and other UCDC Studies Fumio Endo, Kumamoto, University School of Medicine, Kumamoto (Japan) Stefan Kölker, University Children s Hospital, Heidelberg (Germany) Marshall Summar, Children s National Medical Center, Washington DC (USA)
5 ABOUT THE SYMPOSIUM Program Lecture Title/Event Summary Speaker Session 4: Clinical Themes and Patient Outcomes (Moderators: Stefan Kölker and Marshall Summar) 14:30 Acute Liver Damage and Long-Term Risk for Liver Carcinoma Do UCDs lead to acute and chronic liver damage with long-term risk for cancer? Renata Gallagher, Colorado Children s Hospital, Aurora (USA) 15:00 Break 15:15 Effect of High Glutamine Levels on Outcome Are we justified in focusing on glutamine levels during follow-up? Uta Lichter-Konecki, Children s National Medical Center, Washington DC (USA) Dietary Protein in Urea Cycle Disorders: How Much? Which? When? and How? Negative effects of excessive protein restriction in UCD Avihu Boneh, Royal Children s Hospital, Melbourne (Australia) 16:15 Neuropsychological Outcomes Results from the UCDC s longitudinal study Susan Waisbren, Boston Children s Hospital (USA) 16:45 Quality of Life and Behavioral Abnormali- Results from the E-IMD ties 17:15 Defining MRI Biomarkers for UCD Research UCDC imaging studies and the use of imaging for baseline and follow up after hyperammonemia Andrea Gropman, Children s National Medical Center, Washington DC (USA) 17:45 Discussion (END 18:00) Stefan Kölker, University Children s Hospital, Heidelberg (Germany) & Marshall Summar, Children s National Medical Center, Washington DC (USA) 15:45 Peter Burgard, University Children s Hospital Heidelberg (Germany) Tapas,chocolate,ham,andfreshjuiceatMercadodelaBoqueriainBarcelona.PhotosbyAdamWylesandAstrakoo.
6 ABOUT THE SYMPOSIUM Registra on Please register for the symposium using our on line registra on form: h ps://intranet.pacifico mee ngs.com/gescoform/? cfg=253 You will be able to register for the symposium, welcome recep on, and reserve a hotel room using the website. Full registra on is 170 Euro/person. Student, resident, and fellow registra on is 80 Euro/ person. A er 1 August, the registra on fee will go up to 205 Euro/person for full delegates and 110 Euro/ person for students, residents and fellows. Registra on fees include admission to all scien fic sessions and the poster hall, morning and a ernoon coffee breaks, lunch, and the welcome recep on where a cocktail buffet will be served. A endance confirma on is required for the welcome recep on. You are welcome to bring a guest to the welcome recep on for an addi onal 50 Euro/person. You will also be able to reserve accommoda on using the registra on website. * If you would like to apply for a registra on fee waiver due to financial hardship, please contact Stefan Kölker at Stefan.Koelker@med.uni heidelberg.de Hotels We have rooms reserved at two hotels convenient to La Caixa Forum. You can also make your own arrangements. Please keep in mind that reserving your room directly through the hotel may allow greater flexibility in terms of cancella on, however, rates typically increase as the event date approaches. Booking through the mee ng registra on site will assure that you pay the nego ated rate but cancella on policies may be more restric ve. Read the cancella on terms and condi ons carefully. Catalonia Barcelona Plaza: h p:// barcelonaplaza.barcelonahotels.it/ Ayre Gran Via: h p://ayrehoteles.com/en/hotel granvia/ Hotel Distance from Caixa Forum Double: Single Use Double: 2 people Catalonia Barcelona Plaza 650 meters Euro Euro Ayre Gran Via 450 meters Euro Euro
7 ABOUT THE SYMPOSIUM CallforAbstracts The4thInterna onalsymposiumonureacycledisorderswillhaveposterpresenta onsinaddi ontothe invitedspeakersessions.posterswillbeondisplayattheopeningwelcomerecep ononsunday,1 September,theeveningbeforethesymposium,andduringthesymposiumbuffetlunchonMonday,2 September.Weencouragealla endeesworkinginthefieldofureacycledisorders,tosharetheirworkwith theircolleagues. Submission:PleasesendyoursubmissionbymidnightGMTon9May2013via toDr.Stephen Cederbaum,headofthepostersessionorganizingcommi ee,withacopytojenniferseminara,ucd Symposiumopera onsmanager. onal.org Selec on:posterswillbejudgedforappropriatenessbymembersoftheucdsymposiumorganizing commi ee.correspondingauthorswillbeinformedofacceptancebywednesday,7june2013.travel awardswillbeprovidedtothetoptenabstractssubmi ed.winnersfromeuropewillbeawarded$1,000to fundtheirtraveltotheucdsymposium;non Europeanwinnerswillbeawarded$2,000. Posterspecifica onsforselectedabstracts:thepostersneednotbedis nctfromthosetobedisplayedat theiciemcongressthatfollowsthesymposium.theposterspecifica onsarethesameasfortheiciem submissions.postersmustbeamaximumof90cmwidex150cmhigh(portraitlayout).pleasenotethat horizontallayoutposterscannotbedisplayedaticiem2013orattheucdsatellitesymposium. Formoreinforma onandsubmissionguidelines,pleasecontactjenniferseminara. ContactInforma on PleasecontactJenniferSeminarafromtheUreaCycle DisordersConsor umforgeneralques onsaboutthe symposium.ifyouhaveques onsaboutregistra onor hotels,pleasecontactthetechnicalsecretariat. UreaCycleDisordersConsor um JenniferSeminara Phone:(202) onal.org TechnicalSecretariat GrupoPacifico Phone: mee ngs.com RoofDecora on,parcgüell.photobyadamwyles.
8 Organizing Commi ee UCD Satellite Symposium Co Chairs Marshall Summar, M.D. Ambassador to the Symposium, Publica on Subcommi ee Professor, Pediatrics and Gene c Medicine, George Washington University Chief, Division of Gene cs and Metabolism, Children s Na onal Medical Center Associate Director, UCDC, Washington, D.C. Stefan Kölker, M.D. Ambassador to the Symposium, Publica on Subcommi ee Professor, Head of the Division of Inherited Metabolic Diseases, University Children s Hospital Coordinator, E IMD, Heidelberg, Germany UCD Satellite Symposium Scien fic Program Sub Commi ee Uta Lichter Konecki, M.D., Ph.D. Co Chair, Scien fic Program Commi ee A ending, Gene cs and Metabolism, Children s Na onal Medical Center Associate Professor, Pediatrics, George Washington University Site Director, UCDC, Washington, D.C. Ma hias Baumgartner, M.D. Co Chair, Scien fic Program Commi ee Professor, Pediatrics and Metabolic Diseases Director, Division of Metabolism and Swiss Newborn Screening, University Children s Hospital Zurich Site Director, UCDC; Principal nves gator, E IMD, Zurich, Switzerland Shawn McCandless, M.D., Ph.D. Scien fic Program Commi ee Assistant Professor of Gene cs Case Western Reserve University Center for Human Gene cs Site Director, UCDC, Cleveland, Ohio Johannes Häberle Scien fic Program Commi ee Professor, University Children s Hospital, Zurich, Switzerland ABOUT THE ORGANIZERS Organizing Commi ee Members and Roles Cynthia LeMons Advisor, Abstract Review Subcommi ee Execu ve Director, Na onal Urea Cycle Disorders Founda on, Pasadena, California Stephen Cederbaum, M.D. Advisor, Abstract Review Subcommi ee Emeritus Professor, Psychiatry and Pediatrics, University of California, Los Angeles, California Andrea Gropman, M.D., FAAP, FACMG Advisor, Abstract Review Subcommi ee, Neuroscience Liaison Associate Professor of Neurology and Pediatrics, George Washington University Department of Neurology, Children s Na onal Medical Center Principal Inves gator, Neuroimaging, UCDC, Washington, D.C. Peter Burgard, Ph.D. Advisor Consultant, Pediatric Psychology, University Children s Hospital Co Inves gator, UCDC and E IMD, Heidelberg, Germany Angeles Garcia Cazorla, M.D. Advisor, Liaison to ICIEM Organizing Commi ee Barcelona, Spain Vicente Rubio, M.D. Advisor Professor, Ins tuto De Biomedicina De Valencia (IBV), CSIC Principal Inves gator, E IMD, Valencia, Spain Jennifer Seminara, M.P.H, CCRP Opera ons Program Manager, UCDC, Washington, D.C. Samantha Parker Opera ons Director of External Affairs and Rare Disease Partnerships, Orphan Europe, Paris, France
9 ABOUT THE ORGANIZERS The 4 th Interna onal Symposium on Urea Cycle Disorders is organized jointly by the UCDC, E IMD and NUCDF The Urea Cycle Disorders Consor um (UCDC) was founded in 2003 as one of the original consor a of the NIHfunded Rare Diseases Clinical Research Network. The UCDC works to improve the lives of individuals and families affected by urea cycle disorders through research and educa on. The UCDC conducts a natural history, longitudinal study to develop a be er understanding of UCD treatments and a deeper scien fic understanding UCDs and UCD outcomes, including how UCDs cause brain damage and how to develop protec on against this. The UCDC also conducts neuroimaging studies and clinical trials of promising new drugs for the treatment of UCD. The Consor um constructs and maintains resources with significant informa on for clinicians, researchers, and pa ents and trains physicians to become experts in providing care for and trea ng those with UCD. The European Registry and Network for Intoxica on Type Metabolic Disorders (E IMD) receives funding from the European Union in the framework of the Health Programme. Its aim is to promote health for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). The network has two major ac vi es. The first is to establish a European pa ent registry and the second is to provide European evidence based consensus care protocols. The Na onal Urea Cycle Disorders Founda on (NUCDF) is a nonprofit organiza on dedicated to the iden fica on, treatment and cure of urea cycle disorders. Commi ed to saving children and adults from the catastrophic effects of UCDs, NUCDF is a lifeline to families and medical professionals all over the world seeking crisis interven on, support and treatment informa on. The Founda on provides informa on to affected pa ents and families, promotes educa on for healthcare professionals on the iden fica on, diagnosis and treatment of the disorder, s mulates and supports cri cal research, increases public awareness and educates legislators on the needs of UCD pa ents and families. NUCDF is dedicated to the development and support of mul disciplinary medical and clinical professionals, advocates, policymakers, industry and consumers working together to improve outcomes for persons affected with urea cycle disorders. ABOUT THE INTERNATIONAL CONGRESS The Interna onal Congress on Inborn Errors of Metabolism (ICIEM) is held every three years and is designed to bring the best scien sts and physicians dedicated to inborn errors from around the world together to discuss advances in the understanding, diagnosis and treatment of this family of condi ons. The sponsoring society s board of directors is made up of the heads of the various na onal and interna onal organiza ons dedicated to inborn errors and the sites for the mee ng rotate around the globe to maximize the opportuni es for more junior colleagues to a end. This year s mee ng is sponsored by the Society for the Study of Inborn Errors of Metabolism. ENDORSING ORGANIZATIONS Urea Cycle Disorders Consor um of the Rare Diseases Clinical Research Network European Registry and Network for Inherited Metabolic Disorders Na onal Urea Cycle Disorders Founda on Na onal Ins tutes of Health Office of Rare Diseases Interna onal Congress of Inborn Errors of Metabolism
INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
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