Invited Foreign Speakers:

1．Prof. Chester Whitley
(University of Minnesota, US)

2．Prof. Maria Escolar
(CMO Forge Biologics and Adjunct Professor of Pediatrics, University of Pittsburgh, US)

3．Dr. Jeffrey P. Castelli
(Amicus Therapeutics, Inc., US)

4．Prof. Maria Ester Bernardo
(San Raffaele - Telethon Institute for Gene Therapy (TIGET), Italy)

5．Prof. Shunji Tomatsu
(Nemours Children's Health, Wilmington, Delaware, US)

6．Prof. Paul Saftig
(Biochemical Institute, Christian Albrechts University of Kiel, Germany)

7．Prof. Robert G. Thorne
(Denali Therapeutics & the University of Minnesota – Twin Cities, US)

8．Dr. Heather A. Lau
(Ultragenyx Pharmaceutical Inc. / Global Clinical Development, US)

9．Prof. Hildegard Büning
(Institute of Experimental Hematology, Hannover Medical School, Hannover,Germany)

10．Prof. Derralynn Hughes
(University College London and Royal Free London NHS Foundation Trust, UK)

11．Prof. Nathalie Guffon
(Reference Center of Inherited Metabolic Disorders - Hospices Civils of Lyon, HFME Hospital, France)

12．Prof. Tippi MacKenzie
(The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, US)

13．Dr. Eugen Mengel
(SphinCS Lyso gemeinnützige UG (haftungsbeschränkt), Hochheim, Germany)

Domestric Speakers:

1．Prof. Torayuki Okuyama
(Department of Genomics, Saitama Medical University, Saitama, Japan)

2．Prof. Yoshikatsu Eto
(Advanced Clinical Research Center, Southern Tohoku Institute for Neuroscience, Tokyo, Japan)

3．Prof. Masafumi Onodera
(Gene & Cell Therapy Promotion Center,National Center for Child Heath and Development, Tokyo, Japan)

4．Prof. Hiroshi Kobayashi
(The Jikei University School of Medicine, Tokyo, Japan)

5．Prof. Takashi Hamazaki
(Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan)

6．Dr. Yohta Shimada
(Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan)

7．Assoc. Prof. Karin Kojima
(Department of Pediatrics, Jichi Medical University, Tochigi, Japan)

8. Hiroyuki Sonoda
(JCR Pharmaceuticals Co., Ltd., Hyogo, Japan)

9．Assoc. Kazuhiro Muramatsu
(Jichi Medical University, Tochigi, Japan)

Tentative Program:

Topics: Recent Advances of Gene Therapy and Nobel Enzyme Therapy of LSD

Day1：July 12 (Fri), 2024

9:00-9:10

• Opening Remarks
  Torayuki Okuyama (Department of Genomics, Saitama Medical University)

9:10-9:30

Chair:

Torayuki Okuyama (Department of Genomics, Saitama Medical University)

• Lysosomal diseases: an Overview
  Yoshikatsu Eto (Advanced Clinical Research Center, Southern Tohoku Institute for Neuroscience)

9:30-10:00

Chair:

Toya Ohashi (The Jikei University School of Nursing, Department of Human Health Science and Therapeutics)

• Current Status of Gene Therapy for Intractable Genetics Diseases
  Masafumi Onodera (Gene & Cell Therapy Promotion Center, National Center for Child Health and Development)

10:00-10:30

Chair:

Masafumi Onodera (Gene & Cell Therapy Promotion Center, National Center for Child Health and Development)

• Gene Therapy for Lysosomal Storage Diseases
  Hiroshi Kobayashi (The Jikei University School of Medicine)

10:30-11:10

Chair:

Yoshikatsu Eto (Advanced Clinical Research Center, Southern Tohoku Institute for Neuroscience)

• An Overview of Progress in Gene Therapy for Mucopolysaccharidosis Diseases
  Chester Whitley (University of Minnesota)　[Online]

11:10-11:20

Coffee Break

11:20-12:00

Chair:

Hitoshi Osaka (Department of Pediatrics, Jichi Medical University)

• REKLAIM, a novel Phase Ib Clinical Trial of FBX-101 (AAVrh10.GALC) Intravenously administered after UCBT for Krabbe Disease
  Maria Escolar (CMO Forge Biologics and Adjunct Professor of Pediatrics, University of Pittsburgh)

12:10-13:00 (by Amicus Therapeutics, Inc.)

Chair:

Kimitoshi Nakamura (Department of Pediatrics, Kumamoto University)

• Pharmacological chaperones – past, present and future
  Jeffrey P. Castelli (Amicus Therapeutics, Inc.)

13:00-13:40 (by AnGes, Inc.)

Chair:

Takanori Yamagata (Department of Pediatrics, Jichi Medical University)

• Hematopoietic Stem Cell Gene Therapy for Hurler Syndrome: interim skeletal, neurological and systemic outcomes
  Maria Ester Bernardo (San Raffaele - Telethon Institute for Gene Therapy (TIGET))

13:40-14:20

Chair:

Motomichi Kosuga (National Center for Child Health and Development)

• MPS IVA: Accelerating Medicines Partnership Bespoke Gene Therapy Consortium for Rare Disorders
  Shunji Tomatsu (Nemours Children’s Health)

14:20-15:00

Chair:

Norio Sakai (Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital)

• Lysosomes: Fascinating organelles involved in health and disease
  Paul Saftig (Biochemical Institute, Christian Albrechts University of Kiel) [Online]

15:00-15:30

Chair:

Hiroshi Kobayashi (The Jikei University School of Medicine)

• Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II
  Torayuki Okuyama (Department of Genomics, Saitama Medical University)

15:30-16:00

Chair:

Masahisa Kobayashi (Department of Pediatrics, The Jikei University School of Medicine)

• Clinical Experience with CNS-Targeting Enzyme Replacement Therapy for Neuropathic MPS
  Takashi Hamazaki (Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University)

16:00-16:40 (by Denali Therapeutics Inc)

Chair:

Torayuki Okuyama (Department of Genomics, Saitama Medical University)

• Engineering delivery of tividenofusp alfa (DNL310) to the brain and other body tissues for MPS II
  Robert G. Thorne (Denali Therapeutics & the University of Minnesota – Twin Cities)

16:40-16:50

Coffee Break

16:50-17:30 (by Ultragenyx Pharmaceutical Inc)

Chair:

Kei Murayama (Diagnostics and Therapeutics of Intractable Diseases, Juntendo University Faculty of Medicine)

• Heparan sulfate in cerebrospinal fluid, a primary disease activity biomarker, is predictive of clinical benefit in patients with MPS IIIA treated with UX111, an in vivo AAV gene therapy
  Heather A. Lau (Ultragenyx Pharmaceutical Inc. / Global Clinical Development)

17:30-18:00

Chair:

Maria Ester Bernardo (San Raffaele - Telethon Institute for Gene Therapy (TIGET))

• Development of hematopoietic stem cell gene therapy for mucopolysaccharidosis type II
  Yohta Shimada (Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine)

18:00-18:40

Chair:

Masafumi Onodera (Gene & Cell Therapy Promotion Center, National Center for Child Health and Development)

• Improving AAV vector-based gene and cell therapy approaches by capsid Engineering
  Hildegard Büning (Institute of Experimental Hematology, Hannover Medical School) [Online]

19:15-21:00
Banquet:Golden CUP Room, Tokyo Prince Hotel

Day2：July 13 (Sat), 2024

9:00-9:30

Chair:

Saki Matsushima (Research Center for Medical Sciences, The Jikei University School of Medicine)

• Gene therapy for patients with Nieman-Pick disease type C
  Karin Kojima (Department of Pediatrics, Jichi Medical University)

9:30-10:10

Chair:

Kenichi Hongo (Department of Cardiology, The Jikei University School of Medicine)

• Exploring clinical and pathological heterogeneity in Fabry disease and real world implications for introduction of a novel enzyme therapy, pegunigalsidase alfa into clinical practice.
  Derralynn Hughes (University College London and Royal Free London NHS Foundation Trust)

10:10-11:00 (by JCR Pharmaceuticals Co., Ltd.)

Chair:

Takashi Hamazaki (Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University)

• Central Nervous System Enzyme Replacement Therapy (ERT) in Mucopolysaccharidosis type II.
  Nathalie Guffon (Reference Center of Inherited Metabolic Disorders - Hospices Civils of Lyon, HFME Hospital)
• Addition of transferrin receptor binder enables efficient brain delivery of AAV for treatment of genetic CNS diseases
  Hiroyuki Sonoda (JCR Pharmaceuticals Co., Ltd.)

11:00-11:40

Chair:

Yasuyuki Fukuhara (National Center for Child Health and Development)

• In utero enzyme replacement therapy for lysosomal storage disorders - interim results
  Tippi MacKenzie (The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research) [Online]

11:40-12:10

Chair:

Toru Uchiyama (Department of Human Genetics, Department of Human National Center for Child Health and Development)

• Gene therapy for autophagy disease
  Kazuhiro Muramatsu (Jichi Medical University)

12:20-13:10 (by Sanofi K.K.)

Chair:

Torayuki Okuyama (Department of Genomics, Saitama Medical University)

• Morbidity and mortality of ASMD patients. Meaning of early diagnosis and treatment
  Eugen Mengel (SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)) [Online]

13:10

• Closing Remarks
  Yoshikatsu Eto (Advanced Clinical Research Center, Southern Tohoku Institute for Neuroscience)