WORLDSymposium™ 2021 Full Program* on Lysosomal Diseases
Emerging Trends: State-of-the-Art for Experts |
(Registration required) | |
10:00 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Introduction and Overview of Course |
10:05 | Andrew P. Lieberman Michigan Medicine University of Michigan Ann Arbor, MI, United States |
Lysosomal Function and Pathogenesis |
10:25 | Marc C. Patterson Mayo Clinic Rochester, MN, United States |
Clinical Features |
10:45 | Amy Gaviglio US Centers for Disease Control and Prevention (CDC) Atlanta, GA, United States |
Newborn Screening |
11:05 | Break | |
11:30 | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States |
Therapies |
11:50 | Patroula Smpokou Division of Rare Diseases & Medical Genetics, Office of New Drugs US Food & Drug Administration (FDA) Silver Spring, MD, United States |
FDA Regulatory Review |
12:10 | Cara O’Neill Cure Sanfilippo Foundation Columbia, SC, United States |
Patient Advocate’s Perspective on Experimental Therapies |
12:30 | Break | |
1:00 | Marc C. Patterson Mayo Clinic Rochester, MN, United States |
Case Studies |
1:20 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
SARS-CoV-2 Virus |
1:40 | Heather Lau New York University School of Medicine New York, NY, United States |
COVID-19: Clinical Impact and Management |
1:59 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Closing Remarks |
2:00 | Adjourn |
Basic Science
Moderators: Brian Bigger & Dao Pan
8:45 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Welcome & Announcements Presentation of 2021 Roscoe O. Brady Award for Innovation and Accomplishment to Ellen Sidransky |
9:00 | Ellen Sidransky National Human Genome Research Institute at National Institutes of Health (NIH) Bethesda, MD, United States |
Innovation Award Speaker Presentation |
9:30 | Wei Zhu University of Minnesota Minneapolis, MN, United States |
Functional connectivity alterations in MPS I mouse brain at the laminar level revealed by resting-state fMRI *2021 Young Investigator Award Recipient |
9:42 | Shih-hsin Kan Children’s Hospital of Orange County Orange, CA, United States |
iPSC-derived human neural stem cells engraft in the brains of immunocompromised MPS I mice |
9:54 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Immunogenicity, genotoxicity, and efficacy of PS gene editing in treating MPS I mice |
10:06 | Lalitha Belur University of Minnesota Minneapolis, MN, United States |
Comparative systemic and neurologic effectiveness of intravenous and intrathecal AAV9 delivered individually or combined in a murine model of mucopolysaccharidosis type I |
10:18 | Live Moderated Q&A | Wei Zhu, Shih-hsin Kan, Chester B. Whitley, and Lalitha Belur |
10:30 | Break & Exhibits | |
11:00 | Tyler Harm Iowa State University Ames, IA, United States |
Treatment with pentosan polysulfate improves neuropathological measures in the canine model of MPS IIIB *2021 Young Investigator Award Recipient |
11:12 | Laura López de Frutos Instituto de Investigación Sanitaria Aragón (IIS Aragón) Zaragoza,Spain |
Testing new biomarkers for lysosomal diseases |
11:24 | Ying Sun Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States |
Novel mechanism of SRT and ERT on recovering the function of mitochondrial and autophagy-lysosomal pathway in Gaucher disease neuronal cell model |
11:36 | Paula Rozenfeld Universidad Nacional de La Plata-CONICET, IIFP La Plata,Argentina |
Gaucher disease mesenchymal stem cells showed reduced osteogenesis and increased osteoclastogenesis and adipogenesis |
11:48 | Live Moderated Q&A | Tyler Harm, Laura López de Frutos, Yin Sun, and Paula Rozenfeld |
12:00 | Break, Exhibits and Satellite Symposia | |
1:00 | Allen Seylani National Institutes of Health (NIH) Bethesda, MD, United States |
Novel regulatory function of GCN5L1 in lysosomal tubulation and biogenesis *2021 Young Investigator Award Recipient |
1:12 | Behzad Najafian University of Washington Seattle, WA, United States |
Direct intercellular cross-correction of α-galactosidase-A deficiency in Fabry disease podocytes through tunneling nanotubes in a mixed cell culture model |
1:24 | Dau-Ming Niu Taipei Veterans General Hospital Taipei,Taiwan |
Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing |
1:36 | Stephanie Newman Western University London, ON Canada |
AAV9-hARSA decreases sulfatide accumulation in the aged ARSA-/- mouse model for metachromatic leukodystrophy *2021 Young Investigator Award Recipient |
1:48 | Live Moderated Q&A | Allen Seylani, Behzad Najafian, Dau-Ming Niu, and Stephanie Newman |
2:00 | Break & Exhibits | |
2:30 | Poster Session | |
3:30 | Break, Exhibits and Networking | |
4:00 | Satellite Symposia |
Translational Research
Moderators: PJ Brooks & Jill Morris
9:00 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
2021 Patient Advocate Leader (PAL) Award Announcement and Presentation to Terri L. Klein |
9:15 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
2021 Young Investigator Awards Announcement and Presentation |
9:30 | Xin Chen University of Texas Southwestern Medical Center Dallas, TX, United States |
Preclinical results in rodents strongly support clinical evaluation of scAAV9/MFSD8 as a potential gene therapy for CLN7 patients |
9:42 | Rachel Bailey University of Texas Southwestern Medical Center Dallas, TX, United States |
Preclinical studies to support the intrathecal delivery of scAAV9/SUMF1 as a gene replacement therapy for multiple sulfatase deficiency |
9:54 | Li Ou University of Minnesota Minneapolis, MN, United States |
PS gene editing with a novel HEXO construct to treat both Tay-Sachs and Sandhoff diseases |
10:06 | Su Jin Choi Duke University Durham, NC, United States |
Immunosuppression with bortezomib and anti-CD20 mAb is effective in reducing neutralizing antibodies to allow repeated AAV administration in mice *2021 Young Investigator Award Recipient |
10:18 | Live Moderated Q&A | Xin Chen, Rachel Bailey, Li Ou, and Su Jin Choi |
10:30 | Break & Exhibits | |
11:00 | Troy Lund University of Minnesota Minneapolis, MN, United States |
Biochemical predictors of neurocognitive outcomes in Hurler syndrome |
11:12 | Jane Kinsella Royal Manchester Children’s Hospital Manchester,United Kingdom |
Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial *2021 Young Investigator Award Recipient |
11:24 | Bernhard Gentner San Raffaele Telethon Institute for Gene Therapy Milano, Italy |
Ex vivo hematopoietic stem cell gene therapy for mucopolysaccharidosis type I (Hurler syndrome) |
11:36 | Bryan Pukenas University of Pennsylvania Philadelphia, PA, United States |
Intracisternal administration of AAV9 gene therapies to target the central nervous system |
11:48 | Live Moderated Q&A | Troy Lund, Jane Kinsella, Bernhard Gentner, and Bryan Pukenas |
12:00 | Break, Exhibits and Satellite Symposia | |
1:00 | John Day Stanford University Stanford, CA, United States |
A phase I/II open-label gene replacement clinical study for late onset Pompe Disease |
1:12 | Torayuki Okuyama National Center for Child Health and Development Tokyo,Japan |
Prevention of cognitive decline in patients with neuronopathic mucopolysaccharidosis type II treated by intracerebroventricular enzyme replacement therapy: 100-week results of an open-label phase 1/2 study |
1:24 | Julian Raiman Birmingham Women and Children’s NHS Foundation Trust Birmingham, United Kingdom |
Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1 |
1:36 | Calogera Simonaro Icahn School of Medicine at Mount Sinai New York, NY, United States |
Modulation of the endocannabinoid receptor CB2 as a novel treatment for the lysosomal diseases |
1:48 | Live Moderated Q&A | John Day, Torayuki Okuyama, Julian Raiman, and Calogera Simonaro |
2:00 | Break & Exhibits | |
2:30 | Poster Session | |
3:30 | Break, Exhibits & Networking | |
4:00 | Satellite Symposia |
COVID-19 Special Session and Clinical Trials
Maurizio Scarpa & Patroula Smpokou
8:55 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Welcome and Keynote Speaker Introduction |
9:00 | Michael T. Osterholm University of Minnesota Minneapolis, MN, United States |
Keynote Address:The COVID Pandemic: The Evolving Reality |
9:30 | Live Moderated Q&A | Michael T. Osterholm |
9:45 | Heather Lau NYU School of Medicine New York, NY, United States |
Impact of SARS-CoV-2 on patients with lysosomal diseases in a major NYC hospital system |
9:57 | Matheus Wilke Hospital de Clinicas de Porto Alegre Porto Alegre, Brazil |
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet |
10:09 | Siddhee Sahasrabudhe University of Minnesota Minneapolis, MN, United States |
Modeling potential interactions between oral Gaucher disease treatment and investigational COVID-19 therapies |
10:21 | Live Moderated Q&A | Heather Lau, Matheus Wilke, and Siddhee Sahasrabudhe |
10:30 | Break & Exhibits | |
11:00 | George Diaz Mount Sinai School of Medicine New York, NY, United States |
Children treated with olipudase alfa for chronic acid sphingomyelinase deficiency show meaningful improvement on clinically relevant outcomes and an overall favorable safety profile: 1-year results of the ASCEND-Peds trial |
11:12 | Nicole Muschol UKE – Universitätsklinikum Hamburg-Eppendorf Hamburg, Germany |
Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B |
11:24 | Emily de los Reyes Nationwide Children’s Hospital Columbus, OH, United States |
Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial |
11:36 | Francesca Fumagalli San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute Milan, Italy |
Lentiviral hematopoietic stem and progenitor cell gene therapy provides durable clinical benefit in early-symptomatic early-juvenile metachromatic leukodystrophy |
11:48 | Live Moderated Q&A | George Diaz, Nicole Muschol, Emily de los Reyes, and Francesca Fumagalli |
12:00 | Break, Exhibits and Satellite Symposia | |
1:00 | Ankit Desai Duke University Medical Center Durham, NC, United States |
Transforming the clinical outcomes in CRIM-negative infantile Pompe disease identified via newborn screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction |
1:12 | Melissa Wasserstein Children’s Hospital at Montefiore, Albert Einstein College of Medicine Bronx, NY, United States |
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial |
1:24 | Ales Linhart General University Hospital and Charles University Prague,Czech Republic |
Switching from agalsidase alfa to pegunigalsidase alfa to treat patients with Fabry disease: 1 year of treatment data from BRIDGE, a phase 3 open-label study |
1:36 | Raphael Schiffmann Baylor Research Institute Dallas, TX, United States |
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3 |
1:48 | Live Moderated Q&A | Ankit Desai, Melissa Wasserstein, Ales Linhart, and Raphael Schiffmann |
2:00 | Break & Exhibits | |
2:30 | Poster Session | |
3:30 | Break, Exhibits & Networking | |
4:00 | Satellite Symposia |
Contemporary Forum
Moderators: Mark Sands & Uma Ramaswami
8:45 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States |
Welcome and Keynote Address Introduction |
8:50 | Peter Marks Center for Biologics Evaluation and Research US Food & Drug Administration (FDA) Silver Spring, MD, United States |
Keynote Address:Trailblazing a Regulatory Framework for Individualized Therapies |
9:20 | Live Moderated Q&A | Peter Marks |
The following session is not available for CME/CE accreditation (unless noted otherwise); CEU credits for GCs may apply. | ||
9:30 | Jeffrey Alexander Spark Therapeutics, Inc Philadelphia, PA, United States |
IdeS: An enabling technology to overcome the limitation of neutralizing antibodies to AAV gene therapy |
9:42 | Marie-Laure Nevoret REGENXBIO Rockville, MD, United States |
RGX-121 gene therapy for severe mucopolysaccharidosis type II (MPS II): Interim results of an ongoing first in human trial |
9:54 | Drew Tietz Sigilon Therapeutics Cambridge, MA, United States |
SIG-018: Novel encapsulated non-viral cell-based therapy for MPS II |
10:06 | Annie Arguello Denali Therapeutics, Inc. South San Francisco, CA, United States |
Iduronate-2-sulfatase transport vehicle rescues neurobehavioral and skeletal phenotypes in a mouse model of mucopolysaccharidosis type II |
10:18 | Live Moderated Q&A | Jeffery Alexander, Marie-Laure Nevoret, Drew Tietz, and Annie Arguello |
10:30 | Break & Exhibits | |
11:00 | Niek van Til AVROBIO Cambridge, MA, United States |
Long-term hematopoietic stem cell gene therapy corrects neuromuscular manifestations in preclinical study of Pompe mice |
11:12 | Rachel Botham Codexis Redwood City, CA, United States |
Engineering α-glucosidase to improve protein stability and cellular uptake for the potential treatment of Pompe disease |
11:24 | Dustin Armstrong Valerion Therapeutics Concord, MA, United States |
VAL-1221: Treating Pompe disease via enhanced glycogen-targeting |
11:36 | Romuald Corbau Freeline Stevenage, United Kingdom |
FLT201: An AAV-mediated gene therapy for type 1 Gaucher disease designed to target difficult to reach tissues |
11:48 | Live Moderated Q&A | Niek van Til, Rachel Botham, Dustin Armstrong, and Romuald Carbau |
12:00 | Break, Exhibits and Satellite Symposia | |
1:00 | John Jefferies University of Tennessee Health Science Center Memphis, TN, United States |
Utilization of artificial intelligence to identify undiagnosed Fabry disease patients: Development of a validated machine learning model |
1:12 | Deborah Marsden Ultragenyx Pharmaceutical Inc. Novato, CA, United States |
Significant unmet need in infants with mucopolysaccharidosis type VII and non-immune hydrops fetalis: A summary of cases |
1:24 | Cristina Baricordi AVROBIO, Inc Cambridge, MA, United States |
Analysis of genetically engineered stem cell product and follow up of gene therapy patients through high-throughput single cell technologies |
1:36 | Miganush Stepanians PROMETRIKA, LLC Cambridge, MA, United States |
A survey of statistical study design and analysis methods for rare disease development programs |
1:48 | Live Moderated Q&A | John Jefferies, Deborah Marsden, Cristina Baricordi, and Miganush Stepanians |
2:00 | Break & Exhibits | |
2:30 | Poster Session | |
3:30 | Break, Exhibits & Networking | |
4:00 | Satellite Symposia |
Late-Breaking
Moderators:Roberto Giugliani & Elizabeth Braunlin
The following session is not available for CME/CE accreditation; CEU credits for GCs may apply.
9:30 | Cathal S. Mahon Denali Therapeutics Inc. South San Francisco, CA, United States |
Molecular architecture determines brain delivery of transferrin receptor targeted iduronate 2 sulfatase in a mouse model of mucopolysaccharidosis type II |
9:42 | Jennifer Clarke Matthews Sanofi Framingham, MA, United States |
Murine models of lysosomal diseases exhibit differences in brain protein aggregation and neuroinflammation |
9:54 | Miles C. Smith University of Minnesota Minneapolis, MN, United States |
Ex vivo lentiviral transduction of hematopoietic stem cells in mucopolysaccharidosis type II (MPS II) mice achieves high levels of systemic iduronate-2-sulfatase (IDS) enzyme activity and normalization of glycosaminoglycans (GAGs) |
10:06 | Juana I. Navarrete Hospital Central Sur PEMEX Mexico City, Mexico |
Use of biomarkers to follow up positive lysosomal diseases in newborn screening |
10:16 | Benedikt Schoser Neurologic Clinic Ludwig Maximilian University of Munich Munich, Germany |
Top Line Results From the PROPEL Phase 3 Study Comparing AT-GAA (cipaglucosidase alfa/miglustat) versus alglucosidase alfa/placebo in Late Onset Pompe Disease. |
10:24 | Live Moderated Q&A | Cathal Mahon, Jennifer Clarke Matthews, Miles Smith, Juana Navarrete and Benedikt Schoser |
10:40 | Break & Exhibits | |
11:00 | Stephanie Cherqui University of California, San Diego La Jolla, CA, United States |
Hematopoietic stem cell gene therapy for cystinosis: Updated results from a phase I/II clinical trial |
11:12 | Priya Kishnani Division of Medical Genetics, Duke University Medical Center Durham, NC, United States |
Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients |
11:24 | Mark Thomas Royal Perth Hospital Perth, Australia |
AVR-RD-01, an investigational lentiviral gene therapy for Fabry disease: Overview of clinical data from phase 1 and phase 2 studies |
11:36 | Kevin M. Flanigan Nationwide Children’s Hospital Columbus, OH, United States |
Updated results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (MPS IIIA) |
11:48 | Live Moderated Q&A | Stephanie Cherqui, Priya Kishnani, Mark Thomas, and Kevin Flanigan |
12:00 | Break, Exhibits and Satellite Symposia | |
1:00 | Michaël Hocquemiller LYSOGENE Neuilly sur seine, France |
CNS-specific reductions of heparan sulfate and secondary storage biomarkers in Sanfilippo syndrome type A patients treated with the investigational gene therapy LYS-SAF302 |
1:12 | Maria J. de Castro Hospital Clínico Universitario de Santiago de Compostela Santiago de Compostela, Spain |
Updated results of Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (MPS IIIB) |
1:24 | Anna I. Bakardjiev Denali Therapeutics South San Francisco, CA, United States |
Intravenous ETV:IDS (DNL310) significantly reduces cerebrospinal fluid heparan sulfate in an open label Ph1/2 study in MPS II patients |
1:36 | Elizabeth M. Berry-Kravis Rush University Medical Center Chicago, IL, United States |
Evidence for long-term efficacy of intrathecal adrabetadex for the treatment of neurological decline in patients with Niemann-Pick disease, type C1 |
1:48 | Live Moderated Q&A | Michaël Hocquemiller, Maria de Castro, Anna Bakardjiev, and Elizabeth Berry-Kravis |
2:00 | Break & Exhibits | |
2:30 | Poster Session | |
3:30 | Virtual Networking Event |
*This is a preliminary program only. ALL times and speakers will be subject to change. Be sure to check back weekly as updates are made. All times are Eastern Standard Time (EST).
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