Please note that this agenda is preliminary and subject to change.
THURSDAY, JUNE 4TH
| Time | Session | Speakers |
|---|---|---|
| 9:00am – 1:00pm | Registration Open | |
| 11:00am-1:00pm | Light Buffet and transfer to congress venue | |
| 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, MD, PhD |
| 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 | Patty Dickson, MD |
| 3:45pm-4:15pm | Networking Break | |
| 4:15pm-5:00pm | Plenary Session 1: Scientific Discoveries 1. Genetics and pathophysiology of MPS disorders 2. Advancements in diagnostic technologies 3. Open issue on therapeutic approaches for MPS | 1. Roberto Giugliani, MD, PhD 2. Hsiang-Yu Lin 3. Simon Jones, MD |
| 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, MD |
| 6:00pm-8:30pm | Get Together Networking Event |
FRIDAY, JUNE 5TH
| Time | Session | Speakers |
|---|---|---|
| 7:30am-8:30am | Sponsored Workshop | |
| 8:30am-10:00am | 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, MD, Paul Harmatz, MD, Robert Giugliani, MD, PhD, Michael Gelb Joseph Muenzer, MD, PhD, Maria Fueller, John Mitchell, Hsiang-Yu Lin |
| 10:30am-11:00am | Networking Break and Poster viewing | |
| 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 Fueller |
| 10:10am-10:20am | Epidemiology of Mucopolysaccharidoses in Brazil: a Report from the MPS Brazil Network | Roberto Giugliani, MD, PhD |
| 10:20am-10:30am | Cellular Phenotypes of Variants in the IDS Gene | Patty Dickson, MD |
| 11:00am-12:30pm | 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: AI: a new frontier in Rare Disease Early Diagnosis | Alberta Spreafico, PhD, MBA |
| 11:50am-12:10pm | Scientific Lecture: Machine Learning approaches to assess the impact of rare diseases on patients and healthcare systems | Pierantonio Russo, MD, FCPP, FAAP, STS |
| 11:30am-11:50am | Scientific Lecture: A comparison of Machine Learning Models for MPS Early Diagnosis | Fatma Al Jasmi, Dean, CMHS |
| 12:05pm-12:30pm | Keynote Lecture: Regulatory Aspects and Ethics of Artificial Intelligence | |
| 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-12:50am | Integrating Clinically Reported Data into an Innovative Patient Registry for MPS in Canada | Michal Inbar-Feigenberg |
| 12:50am-1:00pm | A Novel Locus-Specific GUSB Variant Database to Improve Diagnosis and Disease Severity Prediction in Mucopolysaccharidosis VII | Lindsay Torrice |
| 2:00pm-3:30pm | TOPIC: Advanced Technologies Revolutionizing MPS: Heart, Bone, Eye, and CNS Perspectives | Moderators: Serena Gasperini & Christina Lampe |
| 2:00pm-2:20pm | Keynote Lecture: New technologies for the understanding of the CSN pathophysiology and paving therapies for LSD | Brian Bigger, PhD |
| 2:20pm-2:40pm | Scientific Lecture: Innovative technology for the understanding of pathophysiology and therapy of Heart in MPS | Jacopo Olivotto, MD |
| 2:40pm-3:00pm | Scientific Lecture: Innovative Technology For The Understanding Of Pathophysiology And Therapy Of Skeletal Disorders In MPS | Sunji Tomatsu, MD, PhD |
| 3:00pm-3:20pm | Scientific Lecture: Innovative Technology For The Understanding Of Pathophysiology And Therapy Of Eye Disorders In MPS | Giacomo Bacci, MD, PhD |
| 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 | B. Qiu |
| 3:50pm-4:00pm | Characterizing enteric pathology in MPS IIIA mice suggests diseasespecific vulnerability among lysosomal storage disorders | Jonathan Cooper |
| 4:00pm-5:00pm | Networking Break & Poster Viewing |
SATURDAY, JUNE 6TH
| Time | Session | Speakers |
|---|---|---|
| 8:30am-11:00am | 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 | Keynote Lecture: Crossing CNS Barriers for the treatment of MPS disorders: 20+ years of progress (in honor of David Begley) | Robert Thorne, PhD |
| 9:00am-9:20am | Therapeutic Topics: Gene Therapy where are we targeting? | Alessasndro Fraldi, MD |
| 9:20am-9:40am | Therapeutic Topics: Innovative therapies for LSD: The Promise of Gene Editing, CRISPR, mRNA and Beyond | Natalia Gomez-Ospina, MD, PhD |
| 9:40am-10:00am | Therapeutics 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 | Jose Victor Alvarez Gonzalez |
| 10:30am-11:00am | Networking Break and Poster Viewing | |
| 11:00am-11:45am | TOPIC: Ethics of Artificial Intelligence | 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, MD, PhD |
| 11:30am-11:45am | Q&A | |
| 12:00pm-1:00pm | NOBEL PRICE SPEACH: SYMPOSIUM SPECIAL LECTURE | Moderator: Tim Cox, Kim Angel, Maurizio Scarpa
PROF. SVANTE PÄÄBO |
| 2:00pm-3:30pm | TOPIC: No patient left behind: Form Florence to the World – building equitable global networks for MPS and related diseases care | Moderators: A. 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, MB ChB, MSc, FRCPCH |
| 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 | Panelist: Robert Giugliani, MD, PhD, Martha Solano, MD, Dong-Kzu Jiin, Faith Uzgu, MD, Fatma Al Jasmi, Dean, CMHS, Pranesh Chakraborty, MD, Vu Chin Dung, MD, Yoshikathsu Eto, MD, PhD, Meenakshi Bhat, MD, Ben Omran, MD, Jesus Navaro, MD, Ebrahim Golzari, Salman Kirman, MBBS, MPH, Rachel Siew |
| 3:30pm-4:00pm | Oral Poster Presentations | |
| 3:30pm-3:40pm | What war teaches about rare disease care | Natalia Samonenko |
| 3:40pm-3:50pm | Building Capacity for Early Diagnosis of Rare Diseases in Africa: The Screen4Africa Initiative | Tea Mancuso |
| 3:50pm-4:00pm | TBD | TBD |
| 4:00pm-5:00pm | Networking Break & Poster Viewing | |
| 6:30pm-8:30pm | Networking Dinner |
SUNDAY, JUNE 7TH
| Time | Session | Speakers |
|---|---|---|
| 8:30am-9:30am | TOPIC: Late breaking news and new frontiers | Moderators: F. Deodato-A. Dardis |
| 9:30am-9:45am | Q&A | |
| 9:45am-9:55am | Blocking heparan sulfate biosynthesis through an RNA-based substrate reduction strategy for MPS-IIIC | Victor Barrios Alvarez |
| 9:55am-10:05am | Intra-CSF AAV-mediated Gene Therapy Encoding Covalently Linked HEXA Enzyme Reverses Sandhoff Disease | Sara Marco Costa |
| 10:05am-10:15am | Treatment of Niemann-Pick Type C2 disease by AAV-Npc2-based gene therapy | Gemma Elias Bosch |
| 9:45am-10:15am | Awards Presentation | |
| 10:45am-11:15am | Networking Break & Poster Viewing | |
| 11:15am-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 under the IMPSN leadership at global level THE FUTURE OF MPS | Panelists: Tim Cox, MD, Chris Hendriks, MB ChB, MSc, FRCPCH, John Mitchell, MSc, M.D., FRCPC, Robert Giugliani, MD, PhD, Michal Inbar-Feigenberg, MD , Matthew Ellinwood, DVM, PhD, Brian Bigger, PhD, T.M.Keong, Joseph Muenzer, MD, PhD, Family representatives, Adrian Toggenburger |
| 1:00pm-2:00pm | Closing Up – summary of the meeting and adjourn to 2028 |