Recorded Sessions Available for On-Demand Replay
The virtual ADVANCE 2023, a Sanfilippo Community Conference, held August 29-30, 2023, is a forum for education, scientific presentations, networking, and community building that brought together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters. All to engage and advance the work to help children with Sanfilippo Syndrome.
Hosted by Cure Sanfilippo Foundation, ADVANCE featured high-level collaboration, information sharing, and Sanfilippo-specific learning sessions. Topics included cell therapy, biomarkers for Sanfilippo, data sharing to advance therapeutic development, new treatment approaches, and much more.
On-demand recordings of ADVANCE 2023’s two days of sessions are available below. Each video’s description details the sessions and speakers.
On-Demand Recordings
*** Reminder: Content from any session is not to be recorded, reproduced, or published without permission from the presenter. ***
Day 1 Presentations
Welcome & Introduction
Introduction of ADVANCE 2023 Community Conference from Glenn O’Neill, President of Cure Sanfilippo Foundation, followed by Dr. Cara O’Neill, Chief Science Officer of Cure Sanfilippo Foundation.
Deep Dive: Hematopoietic Cell-Based Therapies to treat Sanfilippo syndrome (Part 1)
Topic & Moderator: Stem Cell and Gene Therapy Overview | Jan Nolta, PhD
Topic: Development of gene modified HSCT for Sanfilippo type C | Rafael Badell-Grau, PhD
Topic: Supraphysiological enzyme and early neurocognitive outcomes after autologous Hematopoietic Stem Cell Gene Therapy in patients with Mucopolysaccharidosis IIIA | Simon Jones, MBChB, BSc, Medicine
Q&A with presenters
Deep Dive: Neural Cell-Based Therapies to treat Sanfilippo syndrome (Part 2)
Moderator: Jan Nolta, PhD
Topic: Use of gene modified iPSCs for Sanfilipppo type B | Michelina Iacovino, PhD
Topic: Development of gene modified allogenic iPSCs for Sanfilippo type A | Oriana Mandolfo, PhD candidate
Topic: Development of gene modified hNSCs for Sanfilippo type A: Continuous Enzyme Replacement in the CNS | Karl Johe, PhD
Q&A with presenters
Economic Burden of Sanfilippo syndrome
Topic: Societal Economic burden of Sanfilippo Syndrome in the United States | Frederick Ashby, MD, PhD Candidate, & Coy Heldermon, MD, PhD
Q&A with presenters
Finding an ABA provider and assent based treatment
Topic: Finding an ABA provider and assent based treatment | Suzanne Moore, MA, BCBA
Q&A with presenter
Novel Iminosugars for the treatment of Sanfilippo Type B
Topic: Novel Iminosugars for the treatment of Sanfilippo Type B | Luigi Pavone, PhD
Q&A with presenter
Use of AAC (Augmentative & Alternative Communication) tools and strategies
Topic: Use of Augmentative & Alternating Communication strategies in Sanfilippo Syndrome (AAC) | Colleen Walsh Lyons, MS, CCC-SLP
Q&A with presenter
Clinical Trial Updates
Topic: Update on Allievex Sanfilippo Type B program | Thomas Mathers
Topic: Ultragenyx Overview of Investigational In Vivo Gene therapy for Mucopolysaccharidosis Type IIIA | Heather Lau, MD, MS
Topic: Update on Lysogene Sanfilippo Type A program | Frits Wijburg, Prof., MD PhD
Q&A with presenters, and Lynda Polgreen MD, MS, The Lundquist Institute
Day 2 Presentations
*** Reminder: Content from any session is not to be recorded, reproduced, or published without permission from the presenter. ***
Emerging Clinical Trials (Part 1)
Topic: Intracerebroventricular Enzyme Replacement Therapy for the treatment of MPS IIIA, Novel Pharma/GC BioPharma | SooKyung Shin, R. Ph, M.S, and Dong-Kyu Jin, MD, PhD
Topic: Initiation and framework of type C and D natural history studies | Jill Wood, CEO Phoenix Nest
Q&A with presenters
Emerging Clinical Trials (Part 2)
Topic: Update on JCR Pharmaceutical’s Sanfilippo types A & B programs | Mathias Schmidt, PhD
Topic: Preclinical Update on University of Pennsylvania’s MPS IIIA & MPS IIIB Gene Therapy Program | Cara Weismann, PhD
Q&A with presenters
Emerging Clinical Trials (Part 3)
Topic: Update on Denali Therapeutics’ Natural History Study & Sanfilippo type A Program | Jonathan Gall, Pharm D. and Kim Ramsey, Patient Advocate
Topic: Cannabadiol (CBD) in Sanfilippo syndrome | Jonathan Acevedo, PhD candidate
Topic: Update on AAV gene therapy for the treatment of Sanfilippo syndrome Type A at UNC | Elizabeth Jalazo, MD and Lindsay Torrice, MSN, CPNP-PC
Q&A with presenters
The IEP process for students with Sanfilippo syndrome
Topic: Partnering with your educational team to develop the an IEP (individualized education plan) that best supports your child’s needs | Shawn Walsh, Ed.S
Q&A with presenter
Animal Models in Sanfilippo Syndrome
Topic: Development of Drosophila melanogaster Model of MPS IIIB | Trudy Mackay, PhD, FRS
Topic: Immune deficient MPS IIIA mice | Jan Nolta, PhD
Q&A with presenter
Ask Me Anything … About Sleep
A caregiver panel discussion of real-world impacts of sleep disturbances and lessons learned | Carrie Fowler, mother to Haidyn; Randy and Catriona Humphrey, parents to Fiona
Deep Dive: Current and Emerging Biomarkers Advancing the Understanding of Sanfilippo syndrome
Moderator: Jeffrey Esko, PhD
Topic: Deep Dive into Biomarkers | Jeffrey Esko, PhD
Topic: Membrane-tethered NAGLU to explore origins of CSF heparan sulfate | Patricia Dickson, MD
Topic: Discovery of Novel blood-based biomarkers for Sanfilippo syndrome | Gal Bitan, PhD
Q&A with presenters
Feeding Tubes (Gastrostomy Tubes/G-Tubes)
Topic: Feeding Tubes. An overview of g-tubes and considerations when deciding whether your child should have one | Erin Jozwiak, RN, MSN, CPNP Q&A with presenterClosing Remarks
Final thoughts from Glenn O’Neill, President of Cure Sanfilippo Foundation, and Dr. Cara O’Neill, Chief Science Officer of Cure Sanfilippo Foundation, and parents to Eliza.
*** Reminder: Content from any session is not to be recorded, reproduced, or published without permission from the presenter. ***
ADVANCE 2023 Sponsors
Special thanks to the ADVANCE 2023 partner sponsors for their support of this Sanfilippo community event and ensuring it was accessible to all at no cost.
