NAPLES - centercongressi.com · ORAL SESSIONS: Speakers must deliver their presentation to the...
Transcript of NAPLES - centercongressi.com · ORAL SESSIONS: Speakers must deliver their presentation to the...
Ataxia TelangiectasiaClinical Research Conference
President of the MeetingClaudio Pignata, Italy
Jayesh Bhatt, UKLuciana Chessa, ItalyWilliam Davis, UKDomenico Delia, ItalyHoward Lederman, USAAndreea Nissenkorn, IsraelBarbara Pietrucha, PolandClaudio Pignata, ItalyCynthia Rothblum-Oviatt, USA
Scientific and Organizing Committee
Local Organizing CommitteeGiuliana Giardino, ItalyVera Gallo, ItalyEmilia Cirillo, Italy
A-TCRN AdministratorsWilliam Davis, A-T Society, UKCynthia Rothblum-Oviatt, PhD, A-T Children's Project, USA
Ataxia TelangiectasiaClinical Research Conference
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Ataxia TelangiectasiaClinical Research Conference
Ataxia TelangiectasiaClinical Research Conference
Dear colleagues,
The A-T Clinical Research Conference 2018 is the primary biennial international meeting on ataxia-telangiectasia, a rare and complex genetic condition giving rise to profound neurological and immunological disabilities. The Conference brings together clinicians, therapists and laboratory researchers to focus on improving clinical care and developing new treatments for people with A-T.
We have a full and innovative programme focusing on how we can harness recent scientific and technological advances to better treat ataxia-telangiectasia. As in past conferences, the emphasis will be on encouraging information sharing and debate.
A-T Clinical Research Conference will also be an opportunity to admire the beauties of Naples and its surroundings, including Pompeii, the Amalfi Coast and the beautiful islands of the gulf of Naples, Capri, Ischia, Procida.
Welcome to Naples!
Claudio Pignata
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Ataxia TelangiectasiaClinical Research Conference
General Information
Keynote Lecture I
Session 1. Cancer
Session 2. Respiratory round tables Round Table I: Respiratory physiotherapy and other treatment modalities Round Table II: Functional evaluation of the lung Round Table III: Magnetic Resonance Imaging (MRI) of the lung
Keynote Lecture II
Session 3. Basic Neuroscience
Session 4. Clinical Neurology
Poster Session
Session 5. Therapeutic challenges for older patients Clinical overviews Basic Science: Metabolism
Short Session 6. Immunology
Session 7. Clinical Trials for A-T
Short Session 8. Cognition and psychological/social issues in A-T
Short Session 9. Factors affecting disease severity
Oral communicationsSession 10. Unusual or difficult cases research projects from young investigators
Closing remarks
INDEX
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Ataxia TelangiectasiaClinical Research Conference
First floor
Ground floor
VENUE
Registration
Main Hall
PosterArea
Slid
e Ce
nter
StandArea
CateringArea
ENTRANCEVia Partenope 36
Congress Center of the University of Naples Federico II (Via Partenope, 36)
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Ataxia TelangiectasiaClinical Research Conference
GENERAL INFORMATION
Social dinner on Friday 30th November 2018The social dinner will take place in a restaurant overlooking the Bay of Naples.A bus transfer will depart at 20:00 from opposite the Hotel Royal Continental (100 mt to the right facing the Congress venue).
“A lifelong AT career achievement award will be awarded to Richard Gatti”
BadgesOnly registered participants can access the Congress Center. Please wear your badge at all times during the congress.
Registration and information deskThe Registration and Information desk is located on the ground floor of the Congress Center and will be open at the following times: 29th Nov 12:30 - 18:30 30th Nov 8:30 - 19:00 1st Dec 8:30 - 12:30
Coffee breaks and lunchesCoffee breaks and lunches during the meeting will be served in the catering areaon the 1st floor of the Congress Center.
Information for presenters
ORAL SESSIONS: Speakers must deliver their presentation to the Slide Center at least 1 hour before the beginning of their session. If presentations have special features (e.g., videos, etc.) please advise the Slide Center at least 4 hours before the start of the session. Speakers are kindly requested to keep within the allotted time. Chairpersons have been instructed to ensure that all speakers keep to the assigned time frame.
POSTER SESSIONS: Presenters are requested to stand by their poster(s) during their poster session from 13.00 to 14.00. Set up and removal times: posters must be hung, on the day of the session only, preferably between 8.30-9.30, and must be removed at the end of the same day not later than 19.00. The Organizing Secretariat will not be held responsible for posters that have not been removed. Tape will be provided in the poster area.
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Ataxia TelangiectasiaClinical Research Conference
14.00 Welcome Living with A-T: Introduction from an Italian Family
Chair: Richard Gatti, USA14.20 Keynote Lecture I Pleiotropic roles of ATM in cell biology and future research directions Yossi Shiloh, Israel
1-SESSION: CANCER Chair: Jan Loeffen, The Netherlands15.05 Clinical Retro- and prospective tumour survey in A-T Nicholas Davies, UK Basic Science: Chromothripsis15.20 Chromothripsis in DNA repair disorders Zeynep Tümer, Denmark15.35 ALL in A-T: Link between ATM mutations and chromothripsis Manasi Ratnaparkhe, Germany15.50 Group Discussion of Clinic Issues • protocols for management of common cancers • guidelines for tumor surveillance (especially for solid tumors) • biorepository for sample storage consistent saving of biopsy tissue • the molecular basis of cancer in A-T
16.20 Coffee Break
2-SESSION: RESPIRATORY ROUND TABLES Chair: Jayesh Bhatt, UK Round Table I: Respiratory physiotherapy and other treatment modalities16.40 When to initiate airway clearance in someone with minimal symptoms and best modality Nicky McNarry, UK16.50 The role of hypertonic saline in treatment Deborah Snijders, Italy17.00 When and in whom to commence prophylactic antibiotics Stefan Zielen, Germany17.10 Discussion
November 29th
PROGRAMMEMain Hall
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Ataxia TelangiectasiaClinical Research Conference
November 29th Main Hall
Round Table II: Functional evaluation of the lung17.20 Scores for lung evaluation in A-T Ifat Sarouk, Israel17.30 Hallmarks of lung disease in A-T versus other PIDs Francesca Santamaria, Italy17.40 Link between infections and lung disease in A-T Abrey Yeo, Australia17.50 Discussion
Round Table III: Magnetic Resonance Imaging (MRI) of the lung18.00 Update from the UK Andrew Prayle, UK18.10 Discussion
18.30 Welcome Cocktail
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Chair: Ridha Barbouche, Tunisia 8.30 Keynote Lecture II The porcine model for A-T David Pearce, USA 3-SESSION: BASIC NEUROSCIENCE Chair: Yossi Shiloh, Israel 9.00 Overview of the neurological features of AT Tom Crawford, USA 9.15 What is known about the cerebellum and ataxia? Henry Paulson, USA 9.30 Physiologically-induced DNA double-strand break repair is defective in Purkinje cells in a mouse model of ataxia-telangiectasia Martin Lavin, Australia 9.45 What can be learned from DNA repair deficiencies in the mouse brain? Peter McKinnon, USA10.00 Induced Pluripotent Stem cells and organoids: experimental models to approach neurodegeneration Domenico Delia, Italy10.15 Group Discussion • What does this mean for the clinic?10.45 Coffee Break 4-SESSION: CLINICAL NEUROLOGY Chair: Andrea Nissenkorn, Israel11.15 CATNAP imaging study: an update Robert Dineen, UK11.30 Functional Scale for A-T: an update Maureen Lefton-Greif, USA11.45 Interactive virtual reality system to maximize motor learning profiles Carmine Berlingieri, Italy12.00 Wearable body sensors to quantify neurodegeneration Richard Festenstein, UK12.15 Computer learning for A-T Anoopum Gupta, USA12.30 Group Discussion
November 30th Main Hall
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Ataxia TelangiectasiaClinical Research Conference
13.00-14.00 Lunch and Poster viewing
P_01 An audit of local follow-up for patients seen in the national UK paediatric Ataxia- Telangiectasia (A-T) clinic E. Petley*, W. Whitehouse, J. Bhatt, G. Chow, E. McDermott, L. Cliffe, M. Suri, *UK
P_02 Development of miniATM Q-PCR and D-PCR assays M. Menotta*, C. Spapperi, A. Ricci, S. Orazi, M. Magnani, *Italy
P_03 In Ataxia Telangiectasia, oral betamethasone administration interferes in lymphocytes functionality on IL-7/IL-7RA axis through modulation of intracellular trafficking R. Prencipe*, E. Cirillo, G. Giardino, V. Gallo, L. Palamaro, G. Scalia, L. Del Vecchio, C. Pignata, *Italy
P_04 Diabetes in Ataxia telangiectasia H. Pommerening*, U. Hess, M. Theis, R. Schibert, S. Wolke, *Germany
P_05 Assessment of liver disease by transient elastography in Ataxia telangiectasia U. Heß*, S. Wolke, H. Pommerening, M. Theis, V. Knop, R. Schubert, S. Zielen, *Germany
P_06 Study of influenza vaccine uptake in children seen at the UK National AT Centre E. McDermott*, L. Cliffe, E. Boules, *UK
P_07 Novel ATM functions linking cell metabolism and oxidative stress M. Vinciguerra*, C. Bruhn, M. Aduano, C. Milanese, D. Delia, P.G. Mastroberardino, N. Mitro, V. Costanzo, *Italy
P_08 Analysis of scoliosis in children and young people with Ataxia-Telangiectasia J. Rangaraj*, M.T. Ong, M. Suri, M. Shafafy, W.P. Whitehouse , *UK
P_09 Efficiency of immunoglobulin production in different subgroups of Ataxia Telangiectasia in the Nijmegen cohort M. Schoenaker*, C.M.R. Weemaes, M. van der Burg, M.A.A.P. Willemsen, *The Netherlands
P_10 Experiences with off-label use of nicotinamide riboside (vitamin B3) in Ataxia- Telangiectasia patients S.J.G. Veenhuis*, N.J.H. van Os, C.M.R. Weemaes, M.A.A.P. Willemsen, *The Netherlands
P_11 Neuromuscolar anomalies in Atassia-Teleangiectasia: clinical and electrophysiological M. Cazzaniga*, A.M. Cappellari, L. Dell'Era, C. Barsalini, L.A. Baselli, R.M. Dellepiane, *Italy
P_12 Expanding phenotype of polynucleotide kinase-phosphatase (PNKP) C. Caputi*, M. Tolve, S. Galosi, G. Conte, C.A. Carducci, A. Angeloni, V. Leuzzi, *Italy
P_13 Comparison of selected parameters of redox homeostasis in patients with Ataxia- Telangiectasia (AT) and Nijmegen Breakage Syndrome (NBS) B. Pietrucha, E. Heropolitanska-Pliszka*, M. Maciejczyk, H. Car , J. Sawicka-Powierza, R. Motkowski, J. Karpinska, M. Hryniewiecka, A. Zalewska, M. Pac, B. Wolska-Kusnierz, D. Gładysz, E. Bernatowska, B. Mikoluc, *Poland
November 30th Area Poster
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5-SESSION: THERAPEUTIC CHALLENGES FOR OLDER PATIENTS Chair: Malcolm Taylor, UK CLINICAL OVERVIEWS14.00 Endocrine and lipid alterations in A-T Stefan Zielen, Germany14.10 Skin and reproductive abnormalities in A-T Howard Lederman, USA14.20 Liver disease in A-T Batya Weiss, Israel14.30 Heart disease in A-T Lorenzo Loffredo, Italy14.40 RAMP (Response of Individuals with A-T to Metformin & Pioglitazone) Laura McCreight, UK BASIC SCIENCE: METABOLISM14.50 The role of ATM in cellular metabolism: an update Karl Herrup, HongKong15.00 ATM and cell metabolomics Vincenzo Costanzo, Italy15.10 Group Discussion • Diabetes • Safety of statins in lowering lipids • Use of estrogen for osteoporosis
6-SHORT SESSION: IMMUNOLOGY Chair: Howard Lederman, USA15.30 Inflammation in A-T Sharon McGrath-Morrow, USA15.45 Understanding the disease from the variability of the immune defects Claudio Pignata, Italy16.00 Mortality and Immunity in Ataxia-telangiectasia with and without IgA deficiency Ralf Schubert, Germany16.15 Group Discussion
16.35 Coffee break
November 30th Main Hall
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Ataxia TelangiectasiaClinical Research Conference
7-SESSION: CLINICAL TRIALS FOR A-T Chair: Terry Sanger, USA16.50 ATTeST (EryDex System): an update Guenter Janhofer, EryDel Representative, Italy17.00 Pros and cons of intra-erythrocyte dexamethasone administration: a long term follow-up Roberto Micheli, Italy17.10 Oral betamethasone formulation: an update Bruce Hochstadt, Grace Therapeutics Representative, USA17.20 The potential of deep brain stimulation for A-T Terry Sanger, USA17.35 Non-viral vector gene therapy approach for A-T James Dixon, UK17.50 Anti-sense oligonucleotides therapy to target splice site mutations in the ATM gene Oded Regev, USA18.00 Group Discussion
8-SHORT SESSION: COGNITION AND PSYCHOLOGICAL / SOCIAL ISSUES IN A-T Chair: William Davis, UK – Ennio Del Giudice, Italy18.15 Cognition and A-T: an update Franziska Hoche, USA18.30 Key psychosocial and relational issues Ennio del Giudice, Italy18.45 Live well with A-T: addressing the psychological and emotional impact of A-T on quality of life Anne Murray, UK19.00 - 19.20 Group Discussion
November 30th Main Hall
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9- SHORT SESSION: FACTORS AFFECTING DISEASE SEVERITY Chair: Martin Lavin, Australia 9.00 How NGS can contribute to identify genetic factors that modify disease severity Vincenzo Nigro, Italy 9.15 Identifying potential mechanisms to suppress A-T pathologies Rimma Belotserkovskaya, UK 9.30 Group Discussion • Phenotypic variability within families
10-SESSION: UNUSUAL OR DIFFICULT CASES AND DISCUSSION and RESEARCH PROJECTS FROM YOUNG INVESTIGATORS Chairs: Domenico Delia, Agata Polizzi, Italy10.00 A systematic review of the natural history of Ataxia- Telangiectasia (A-T): case series results E. Petley*, S. Ojha, W.P. Whitehouse, *UK
10.10 Relationship between vitamin D status and abnormal liver function in children with Ataxia Telangiectasia M. Delgado-Thompson*, A. Prayle, M. Suri, A. Bush, J. Bhatt, *UK
10.20 Phenomenology of myoclonus in childhood onset A-T patients with advanced disease S. Galosi*, C. Caputi, D. D'Agnano, M.T. Giannini, V. Leuzzi, *Italy
10.30 Orthopedic symptoms, their relevance, and interventions in Ataxia Telangiectasia T. Burgers*, R. Jahnsen, *Norway
10.40 Treatment of granulomas in patients with Ataxia telangiectasia S. Woelke, E. Valesky, S. Bakhtiar, H. Pommerening*, L.M. Pfeffermann, R. Schubert, S. Zielen, *Germany
10.50 Classical Ataxia Telangiectasia beyond the age of 30 years N. van Os*, C.M.R. Weemaes, M. van Deuren, B.P.C. van de Warrenburg, M.A.A.P. Willemsen, *The Netherlands
11.00 Treatment of severe dystonia in an Ataxia Telangiectasia patient M. Theis*, H. Pommerening, S. Wolke, S. Zielen, M. Kieslich, *Germany
11.10 Ataxia-Telangiectasia: epidemiological survey in Brazil J. Loekmanwidjaja*, E.O. Dantas, J.L. Mazzucchelli, C.S. Aranda, J.F.S. Ferreira, V.M. Dantas, V.S.F. Sales, M.M.S. Vileva, I.P. Mota, C.M. Kokron, M.T. Barros, N.A. Rosario, H.J. Chong Neto, O.A. Takano, M.I.S.V. Nadaf, L.S.L. Moraes, F.S. Tavares, F. Rabello, E.S. Goudoris, M. Souza, A.C. Branco, A. Condino-Neto, W.C.N. Forte, F.A.A. Carvalho, G. Segundo, M.F.A. Cheik, P.R. Junior, M. Peres, A.M. Oliveira, A.C. Porto-Neto, A.S. Grumach, D.C. Costa, N.M.N. Antunes, V. Nudelman, C.T.M. Pereira, D.C. Bichietti-Silva, C.C.M. Prando, B.T. Costa-Carvalho, *Brasil
December 1st Main Hall
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11.20 Biomarkers and precision therapy for ataxia-telangiectasia: an ex vivo study in inducible pluripotent stem cells S. Masneri*, E. Genova, F. Cavion, M. Lucafò, M. Pelin, A. Tesser, E. Piscianz, G. Lanzi, R. Ferraro, G. Decorti, A. Tommasini, S. Giliani, G. Stocco, *Italy11.30 CLOSING REMARKS Cynthia Rothblum-Oviatt, USA William Davis, UK Claudio Pignata, Italy
11.45 Brunch
December 1st Main Hall
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We are grateful for the support of
Ataxia TelangiectasiaClinical Research Conference
Università Federico II di NapoliScuola di Medicina e
Chirurgia Federico II di Napoli
Dipartimento di Scienze Mediche TraslazionaliFederico II di Napoli
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[email protected] • www.centercongressi.comwww.centercongressi.com/atconference2018
Via G. Quagliariello, 27 • 80131 Napoli • ph 081.19578490 • fax 081.19578071
ALBONAZIONALE
AGENAS • n.726
Organizing Secretariat