Meeting Program
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Organizers:
Nicola Brunetti-Pierri, Telethon Institute of Genetics and Medicine, IT
Pasquale Piccolo, Telethon Institute of Genetics and Medicine, IT
Jeffrey Teckman, Saint Louis University, US
Confirmed speakers:
Ayan Banerjee, Beam Therapeutics, US
Paloma Giangrande, Wave Life Sciences, US
Neil Henderson, University of Edinburgh, UK
Leah Liu, Korro Bio Inc., MA, US
George Makar, Food and Drug Administration, US
Stefan Marciniak, University of Cambridge, UK
Ed Marins, Takeda Pharmaceuticals, US
Peter Olinga, University of Groningen, NL
Phil Rosenthal, University of California San Francisco, US
Carmine Settembre, Telethon Institute of Genetics and Medicine, IT
Pavel Strnad, RWTH Aachen University, GER
Andrew Wilson, Boston University, US
Scientific Program
September 7th, 2023
10:30 – 10:40 Welcome and TIGEM presentation
10:40 – 11:20 Opening lecture: Alpha1-antitrypsin deficiency: a forgotten liver disease - Pavel Strnad (RTWH Aachen, GER)
Session 1: Natural history and clinical heterogeneity - Chair: Andrew Wilson - Nicola Brunetti-Pierri
11:20 – 11:50 "Results from the Alpha-1 Foundation Adult Liver Natural History Study" - Jeffrey Teckman (University of St. Louis, US)
11:50 – 12:20 "Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD-LD) – Natural history data gaps and a proposal to overcome them" - Ed Marins (Takeda Pharmaceuticals, US)
12:20 – 12:35 "Characteristics of Patients with Alpha-1 Antitrypsin Deficiency Highlighting Liver Symptomology Among the United States Cohort in the Alpha-1 Foundation Research Registry" - Jeanine D’Armiento (Alpha-1 Foundation, US)
12:35 – 13:45 Lunch break
13:45 – 14:15 "Alpha-1-Antitrypsin Deficiency: Lessons Learned from the Childhood Liver Disease Research Network (ChiLDReN)" - Phil Rosenthal (University of California San Francisco, US)
14:15-14:30 "Prediction of liver-related endpoints by non-invasive fibrosis tests in a longitudinal study of adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype)" - Malin Fromme (RTWH Aachen, GER)
Session 2: Novel therapies for liver disease in AATD - Chair: Stefan Marciniak - Pasquale Piccolo
14:30 – 15:00 "RNA base editing for the treatment of Alpha-1 antitrypsin deficiency" - Paloma Giangrande (Wave Life Science, US)
15:00 – 15:30 "RNA editing for Alpha-1 Antitrypsin Defiency" - Leah Liu (Korro Bio, US)
15:30 – 16:00 Coffee break
16:00 – 16:30 "BEAM-302: Targeting AATD-related Liver and Lung Disease with Base Editing" - Ayan Banerjee (Beam Tx, US)
16:30 – 17:00 "Developing therapeutics for AATD Associated Liver Disease (AATD-LD) - progress in Takeda’s clinical program" - Ed Marins (Takeda Pharmaceuticals, US)
17:00 – 17:30 "Drug Approval in Rare Diseases" - George Makar (Food and Drug Administration, US)
17:30 – 17:45 "The Critical Path for Alpha-1 antitrypsin deficiency (CPA-1) Consortium: a public-private collaborative approach to develop solutions for unmet needs specific to rare disease drug development" - Gina Calarco Smith (Critical Path Institute, US)
17:45 – 18:00 "Cell specific gene editing for treatment of Alfa 1 Antitrypsin Deficiency" - Tiziana Patrizia Cremona (Bern University Hospital, Switzerland)
19:30 Social dinner at Hotel Gli Dei
September 8th, 2023
9:30 – 10:10 Keynote lecture: Multimodal decoding of human liver regeneration - Neil Henderson (University of Edinburgh, UK)
Session 3: Recent advances from basic science - Chair: Jeffrey Teckman - Anna Fra
10:10 – 10:40 "Transcriptional induction of ER-phagy enhances lysosomal clearance of ATZ" - Carmine Settembre (TIGEM, IT)
10:40 – 11:10 "Z-⍺1-antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state" - Stefan Marciniak (University of Cambridge, UK)
11:10 – 11:25 "Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin" - Nunzia Pastore (TIGEM, IT)
11:25 – 12:00 Coffee break
12:00 – 12:15 "Mitochondrial dysfunction in liver disease associated with AAT deficiency" - Pasquale Piccolo (TIGEM, IT)
12:15 – 12:30 "Evaluation of polymer fate in ex vivo patient-derived organoids expressing Z alpha-1 antitrypsin" - Riccardo Ronzoni (University College London, UK)
12:30 – 12:45 "Intercepting a structural intermediate of α1-antitrypsin on the path to polymer formation" - James Irving (University College London, UK)
12:45 – 13:00 "The gut-liver axis in AATD-associated liver disease" - Francesco Annunziata (TIGEM, IT)
13:00 – 14:15 Lunch break
Session 4: New tools for therapy discovery and development - Chair: Pavel Strnad - Nunzia Pastore
14:30 – 15:00 "Modeling MZ heterozygosity using patient-derived pluripotent stem cells" - Andrew Wilson (Boston University, US)
15:00 – 15:15 "Host preconditioning and transient mitogen expression via mRNA-LNP lead to robust primary human hepatocyte engraftment and iPSC-derived hepatocyte-like cell survival in mice" - Anna R. Smith (Boston University, US)
15:15 -15:45 "Precision-Cut Liver Slices: A Cutting-Edge Tool for Advancing Drug Discovery in Liver Diseases?" - Peter Olinga (University of Groningen, NL)
15:45 – 16:00 "Alteration of lipid homeostasis in ZZ liver organoids revealed by lipidomic and transcriptomic analysis" - Beatriz Martinez-Delgado (Institute of Health Carlos III, ESP)
16:00 – 16:15 "A comprehensive approach to characterize novel rare variants of alpha-1-antitrypsin" - Annamaria Fra (University of Brescia, IT)
16:15 – 16:30 Conclusions and farewell