2019 FAST Science Summit

• A clinical trial assessing the benefits of using an exogenous ketone supplement in the management of Angelman syndrome
  Explore the findings of Dr. Duis and Dr. Herber’s clinical trial on using an exogenous ketone supplement for managing Angelman syndrome. Discover the safety, tolerability, and potential benefits of this approach.
• A therapeutic approach to treating Angelman syndrome using hematopoietic stem cell (HSC) gene replacement therapy
  Explore the potential of hematopoietic stem cell gene replacement therapy in treating Angelman Syndrome. Learn about the process, benefits, pre-clinical studies, and future plans for this promising approach.
• AAV Gene Therapy – PTC Therapuetics
  Explore PTC Therapeutics’ innovative AAV gene therapy program, focusing on rare CNS diseases. Learn about their pipeline, targeted dosing, and commitment to safety and efficacy in research.
• ASO for potential treatment of AS – GeneTx Biotherapeutics
  Explore the partnership between Ultragenyx and Genetics Biotherapeutics as they develop GTX-102, a potential treatment for Angelman Syndrome. Learn about the clinical trials and caregiver input shaping the study.
• Collaborative efforts toward an AAV gene replacement therapy for the treatment of Angelman syndrome
  Explore the collaborative efforts of Dr. Jim Wilson and John Crowley in developing a gene replacement therapy for Angelman syndrome. Discover their progress, challenges, and hope for the future.
• Genetics and Therapeutic Overview
  Explore the genetics of Angelman Syndrome, current research, and therapeutic strategies. Learn about gene replacement therapy, activating the UBE3A gene, and downstream therapeutics.
• Improving the regulatory process and advancing regulatory science for rare disease therapies
  Explore the challenges and advancements in rare disease treatment development with Emil Kakkis, CEO of Ultragenyx Pharmaceuticals. Discover the importance of collaboration, innovative study designs, and comprehensive treatment assessment.
• OV101 for the Treatment of AS
  Explore Dr. Amit Rakhit’s insights on OV101, a potential treatment for Angelman Syndrome. Learn about its development, clinical trials, and the potential impact on patients’ lives.
• Round Table Discussion on Development of Therapies for AS
  Explore the key insights from the 2019 FAST Science Summit’s round table discussion on the development of therapies for Angelman Syndrome. Experts address community questions, discuss potential benefits, and emphasize global access.
• The FREESIAS Study
  Explore the FREESIAS Study led by Dr. Michelle Krishnan at Roche, aiming to translate scientific research into treatments for rare diseases, focusing on Angelman syndrome.
• The development of an antisense oligonucleotide therapy for Angelman syndrome
  Explore the development of an antisense oligonucleotide therapy for Angelman syndrome by Ionis Pharmaceuticals and Biogen. Learn about the progress, clinical trials, and future steps.
• The use of the NNZ-2591 compound as a potential therapeutic for Angelman syndrome
  Explore Neuren Pharmaceuticals’ development of NNZ-2591, a potential therapeutic for Angelman syndrome and other synaptopathies. Learn about its mechanism, clinical trials, and future plans.
• Update on the Natural History Study in Angelman Syndrome
  Participate in the Angelman Syndrome Natural History Study to understand the syndrome better. Help develop effective therapies. Join now!