THURSDAY, JUNE 4TH
| Time | Session | Speakers |
|---|---|---|
| 9:00am – 1:00pm | Registration Open | |
| 11:00am | Press Conference – Palazzo degli Affari | Kim Angel, Maurizio Scarpa, Flavio Bertoglio, Authorities |
| 11:00am-1:00pm | Light Buffet | |
| 1:00pm-2:00pm | Opening Address and Welcome | City of Florence, Tuscany Region. Local authorities and EU |
| 2:00pm-2:45pm | Opening Address | Kim Angel, Maurizio Scarpa, Flavio Bertoglio |
| 2:45pm-3:15pm | Back 20 Years, Looking to Next 20: A Vision for the MPS Community | Joseph Muenzer |
| 3:15pm-3:45pm | Progress in Curing Patients: reflecting on 20 years of breakthroughs Improvements in Patient Care and Management Impact of Clinical Trials on Treatment Outcomes | Patti Dickson |
| 3:45pm-4:15pm | Networking Break | |
| 4:15pm-5:00pm | TOPIC: Scientific Discoveries | |
| Genetics and pathophysiology of MPS disorders | Roberto Giugliani | |
| Advancements in diagnostic technologies | Hsiang-Yu Lin | |
| Open issue on therapeutic approaches for MPS | Simon Jones | |
| 5:00pm-5:30pm | Keynote presentation: Progress in Curing Patients: reflecting on 20 years of breakthroughs Improvements in Patient Care and Management Impact of Clinical Trials on Treatment Outcomes Challenges and Solutions in Patient Access to Therapies | Paul Harmatz |
| 6:00pm-8:30pm | Welcome to Italy Reception – Garden Area |
FRIDAY, JUNE 5TH
| Time | Session | Speakers |
|---|---|---|
| TOPIC: ‘Screening 2030 and Beyond: The Evolving Landscape of MPS and related Diseases Newborn Detection | Moderators: Giancarlo la Marca, Mireia del Toro | |
| 8:30am-9:00am | Keynote Lecture: Newborn Screening for LSDs: past experience to draft future | Alberto Burlina |
| 9:00am-10:00am | Panel Discussion | Barbara Burton, Paul Harmatz, Roberto Giugliani, Michael Gelb, Joseph Muenzer, Maria Fuller, John Mitchell, Hsiang-Yu Lin |
| 10:00am-10:30am | Oral Poster Presentations | |
| 10:00am-10:10am | Signature biomarkers for accurate diagnosis, biochemical monitoring, and elimination of false positives in newborn screening of mucopolysaccharidoses | Maria Fuller |
| 10:10am-10:20am | Epidemiology of Mucopolysaccharidoses in Brazil: a Report from the MPS Brazil Network | Roberto Giugliani |
| 10:20am-10:30am | Cellular Phenotypes of Variants in the IDS Gene | Patti Dickson |
| 10:30am-11:00am | Networking Break & Poster viewing | |
| TOPIC: Digital Revolution in MPS Care: AI-Driven Diagnosis and Clinical Decision Support | Moderators: Carlo Dionisi-Vici, Florian Lagler | |
| 11:00am-11:30am | Keynote Lecture: Digital Health and AI: new frontiers for Rare Diseases | Alberta Spreafico |
| 11:30am-11:50am | Scientific Lecture: A comparison of Machine Learning Models for MPS Early Diagnosis | Fatma Al Jasmi |
| 11:50am-12:10pm | Scientific Lecture: Machine Learning approaches to assess the impact of rare diseases on patients and healthcare systems | Pierantonio Russo |
| 12:05pm-12:30pm | Keynote Lecture: Ethical Dilemmas in the Age of Artificial Intelligence | Margherita Benzi |
| 12:30pm-1:00pm | Oral Poster Presentations | |
| 12:30pm-12:40pm | Increasing Access to Genetic Testing for Lysosomal Storage Disorders Through Artificial Intelligence and No-Cost Genetic Testing | Laura Buch |
| 12:40pm-12:50pm | A Novel Locus-Specific GUSB Variant Database to Improve Diagnosis and Disease Severity Prediction in Mucopolysaccharidosis VII | Lindsay Torrice |
| 12:50pm-1:00pm | Q&A | |
| 1:00pm-2:00pm | Lunch | |
| TOPIC: Advanced Technologies Revolutionizing MPS: Heart, Bone, Eye, and CNS Perspectives | Moderators: Serena Gasperini, Christina Lampe | |
| 2:20pm-2:40pm | Keynote Lecture: New technologies for the understanding of the CSN pathophysiology and paving therapies for LSD | Brian Bigger |
| 2:40pm-3:00pm | Scientific Lecture: Innovative Technology For The Understanding Of Pathophysiology And Therapy Of Skeletal Disorders In MPS | Shunji Tomatsu |
| 3:00pm-3:20pm | Scientific Lecture: Innovative Technology For The Understanding Of Pathophysiology And Therapy Of Eye Disorders In MPS | Giacomo Bacci |
| 3:20pm-3:30pm | Q&A | |
| 3:30pm-4:00pm | Oral Poster Presentations | |
| 3:30pm-3:40pm | Early Efficacy of Vosoritide for the Treatment of Growth Deficits in Patients with MPS IVA and VI | Ellen Fung |
| 3:40pm-3:50pm | Developing an iPSCs-based neural gene therapy approach for MPS IIIA disease | Bei Qiu |
| 3:50pm-4:00pm | Characterizing enteric pathology in MPS IIIA mice suggests diseasespecific vulnerability among lysosomal storage disorders | Jonathan Cooper |
| 4:00pm-6:00pm | Networking Break & Poster Viewing | |
| 6:00pm-8:30pm | Meet Our Stars Reception (Remembrance Ceremony) – Garden Area |
SATURDAY, JUNE 6TH
| Time | Session | Speakers |
|---|---|---|
| TOPIC: The Future of MPS and Related Disorders´ treatment: from gene therapy breakthroughs to regulatory excellence | Moderators: Simona Fecarotta, Nicole Muschol | |
| 8:30am-9:00am | DAVID BEGLEY’S TALK: Innovative approaches to Cross the Blood Brain Barrier for the treatment of CNS | Robert Thorne |
| 9:00am-9:20am | Therapeutic Topics: Gene Therapy where are we targeting? | Alessasndro Fraldi |
| 9:20am-9:40am | Therapeutic Topics: Innovative therapies for LSD: The Promise of Gene Editing, CRISPR, mRNA and Beyond | Natalia Gomez-Ospina |
| 9:40am-10:00am | Therapeutic Topics: Fetal therapy for the treatment of LSDs | Billie Lianoglou |
| 10:00am-10:30am | Oral Poster Presentations | |
| 10:00am-10:10am | Long-term administration of tralesinidase alfa enzyme replacement therapy (TA-ERT) results in profound and durable reduction of heparan sulfate (HS) and stabilization of cognitive function and cortical gray matter volume (CGMV) in patients with Sanfilippo Syndrome Type B (MPS IIIB) | Nicole Muschol |
| 10:10am-10:20am | Preliminary results from a Phase 1/2, first-in-human, open-label study of DNL126 in children with mucopolysaccharidosis IIIA | Paul Harmatz |
| 10:20am-10:30am | Oral Therapy for MPSI | José Victor Álvrez González |
| 10:30am-11:00am | Networking Break & Poster Viewing | |
| TOPIC: | Moderators: Elena Procopio, Martha Solano | |
| 11:00am-11:30am | Conferenza visionaria: One Gene, One Edit, One Cure: The Audacious Promise of Eradicating Mucopolysaccharidoses | Chester B. Whitley |
| 11:30am-11:40am | Brain-derived extracellular vesicles promote neuroinflammation and neuropathology in a mouse model of Sanfilippo syndrome | Mélissa Galindo |
| 11:40am-11:50am | A novel disease-specific microglial population drives neuropathology in MPSIIIB | Katia Alileche |
| 11:50am-12:00pm | Sustained cognitive and adaptive behavior outcomes of long-term treatment with pabinafusp alfa in patients with severe or attenuated mucopolysaccharidosis type II | Roberto Giugliani |
| 12:00pm-1:00pm | NOBEL PRIZE SPEECH: Of Neandertals and Denisovans, and How They Live On in Many of Us | PROF. SVANTE PÄÄBO NOBEL PRICE 2022 |
| 1:00pm-2:00pm | Working Lunch | |
| TOPIC: No Patient Left Behind: From Florence to the World – Building Equitable Global Networks for MPS and Related Disease Care | Moderators: Ashok Vellodi, Moeen Al-Sayed | |
| 2:00pm-2:30pm | Keynote Lectures: CHALLENGES FOR THE FUTURE: THERAPY ACCESS In The World Access To Therapy Around The World | Chris Hendriksz |
| 2:30pm-3:30pm | Panel: Addressing Health Inequities: Strategies For Ensuring Global Equitable Access to MPS and related disorders: toward the creation of a global registry for rare diseases | Panelists: Roberto Giugliani, Martha Solano, Dong-Kzu Jiin, Fatih Ezgü, Fatma Al Jasmi, Dung Chi Vu, Meenakshi Bhat, Tawfeg Ben Omran, Jesus Navarro, Rachel Siew |
| 3:30pm-4:00pm | Oral Poster Presentations | |
| 3:30pm-3:40pm | What war teaches about rare disease care | Nataliia Samonenko |
| 3:40pm-3:50pm | Building Capacity for Early Diagnosis of Rare Diseases in Africa: The Screen4Africa Initiative | Tea Mancuso |
| 3:50pm-4:00pm | Q&A | |
| 4:00pm-5:00pm | Networking Break & Poster Viewing | |
| 6:30pm-9:00pm | Networking Reception & Dinner – Stazione Leopolda |
SUNDAY, JUNE 7TH
| Time | Session | Speakers |
|---|---|---|
| TOPIC: Late Breaking News and New Frontiers | Moderators: Frederica Deodato, Andrea Dardis | |
| 8:30am-8:40am | Defining Childhood Dementia to Advance Research, Policy, and Care: A Global Consensus Project using Delphi Methodology | Kris Kusidlo |
| 8:40am-8:50am | Consensus Project using Delphi Methodology | Elvira De Leonibus |
| 8:50am-9:00am | Expanding rAAV Gene Therapy for MPS IIIA by Overcoming Pre-existing Anti-AAV Immunity Using Ab-C9.2 | Tierra Bobo |
| 9:00am-9:10am | α-Synuclein amyloids drive pre-axonal lysosomal clustering and autophagy block in neurodegeneration | Luigi Borzacchiello |
| 9:10am-9:20am | Advancing RNA therapeutics for MPSIIIA: Targeted SANPs for CNS-specific mRNA delivery | Martina Bamundo |
| 9:20am-9:35am | Q&A | |
| 9:45am-9:55am | Blocking heparan sulfate biosynthesis through an RNA-based substrate reduction strategy for MPS-IIIC | Víctor Barrios Álvarez |
| 9:55am-10:05am | Intra-CSF AAV-mediated Gene Therapy Encoding Covalently Linked HEXA Enzyme Reverses Sandhoff Disease | Sara Marcó Costa |
| 10:05am-10:15am | Treatment of Niemann-Pick Type C2 disease by AAV-Npc2-based gene therapy | Gemma Elias Bosch |
| 10:15am-10:45am | Poster Awards / Presentation Awards / B4B Awards / IMPSN Award | |
| 10:45am-11:15am | Networking Break & Poster Viewing | |
| TOPIC: The Florence Declaration: Families & Scientists United for Global MPS Progress | Moderators: Maurizio Scarpa, Kim Angel | |
| 11:30am-1:00pm | Panel Discussion: Vision for the Next 20 Years: Unified Global Network, Future Treatments, Long-Term Monitoring Family and Scientific selected speakers to identify a program to be pursued at global level THE FUTURE OF MPS | Panelists: Tim Cox, Chris Hendriksz, John Mitchell, Roberto Giugliani, Matthew Ellinwood, Brian Bigger, Joseph Muenzer, Family representatives, Adrian Toggenburger, Tonya Collins Histed |
| 1:00pm-2:00pm | Closing Up – summary of the meeting and adjourn to 2028 |