2023 FAST Science Summit

• An Update on HALOS Clinical Trial in Individuals Living with Angelman Syndrome
  Get the latest update on the HALOS clinical trial for Angelman syndrome treatment. Discover the approach, preliminary findings, and future steps in this groundbreaking research by Ionis Pharmaceuticals.
• Angelman Syndrome Natural History Study – How has it Benefited the Angelman Community over the Last 17 years?
  Explore Dr. Wen-Hann Tan’s 17-year study on Angelman Syndrome, its impact on the community, and future research directions. Learn about the importance of natural history studies in understanding disease progression.
• Clinical Development Update: NNZ-2591 as a Treatment for Angelman Syndrome
  Explore the latest updates on NNZ-2591, a promising treatment for Angelman syndrome by Neuren Pharmaceuticals. Learn about its clinical development, study progress, and future plans.
• DAY 1 Question and Answer Panel | 2023 FAST Summit on Angelman Syndrome
  Get key insights from the 2023 FAST Summit’s Q&A panel on Angelman Syndrome. Learn about the latest research, the importance of community participation, and the promising future of treatment.
• DAY 2 Question and Answer Panel | 2023 FAST Summit on Angelman Syndrome
  Get insights from the 2023 FAST Science Summit’s Q&A panel on Angelman Syndrome. Learn about Phase 3 trials, combination therapies, gene therapy future, and more from experts in the field.
• Designing The Ultimate Backstage Pass to the Brain
  Explore Dr. Barbara Bailus’s innovative ZIP Delivery system, a novel method to overcome the blood-brain barrier and deliver therapies directly to neurons, potentially revolutionizing neurodegenerative disorder treatments.
• Development of a Drug that Strengthens Synaptic Connections for the Potential Treatment of Angelman Syndrome: The Role of BDNF
  Explore the development of a drug enhancing synaptic connections for potential treatment of Angelman Syndrome. Learn about the role of BDNF and the promising results of Syn3 and D-Syn3 in restoring synaptic strength.
• Economic Impact of AS: Results from Caregiver Survey
  Explore the economic impact of Angelman syndrome on caregivers. This article presents survey results, revealing significant costs incurred by caregivers, emphasizing the need for affordable access to treatments.
• FAST’s Roadmap to a Cure: A Year of Tough Setbacks and Huge Progress
  Explore FAST’s journey towards finding a cure for Angelman Syndrome, highlighting the progress, setbacks, and future strategies. Learn about their research, clinical trials, and commitment to this cause.
• From Benchside to Bedside: Collaboration Leads to Acceleration for Novel Delivery of CRISPR Technology
  Explore the exciting advancements in CRISPR technology delivery, from benchside to bedside. Learn about the collaborative efforts, preclinical studies, and the journey of drug development.
• GTP-220: A Gene Replacement Therapy Being Advanced for Angelman Syndrome
  Explore the progress of GTP-220, a gene replacement therapy for Angelman Syndrome, as discussed by Dr. Jim Wilson. Learn about the challenges, disruptive potential, and future plans for this groundbreaking research.
• Hiding in Plain Sight: Dystonia in Angelman Syndrome
  Explore Dr. Robert Carson’s insights on dystonia in Angelman Syndrome, its prevalence, importance of recognition, treatment options, and the role of video documentation in diagnosis.
• Home-Based Video Capture to Assess Function in People Living with Angelman Syndrome
  Explore the innovative use of home-based video capture to assess function in individuals with Angelman Syndrome. This method offers a sensitive, reliable outcome measure, improving clinical trials outcomes.
• How Endpoints are Used for Drug Approval
  Explore the role of endpoints in drug approval, their importance in clinical trials, and how caregiver input shapes the process. Learn about the ABOM consortium’s efforts in improving treatments for Angelman syndrome.
• How FAST’s Laser Focus Benefits Translational Efforts in Neurodevelopmental Disorders More Broadly: The View from a Large Private Research Funder
  Explore Dr. John Spiro’s insights on how FAST’s focus benefits neurodevelopmental disorder research, as shared at the 2023 FAST Science Summit. Learn about the Simons Foundation’s role and key breakthroughs in the field.
• It’s a Small World: Why FAST Is Global
  Explore the global reach of FAST (Foundation for Angelman Syndrome Therapeutics), its challenges, and ambitions for the coming year. Discover how FAST is making significant progress towards finding a cure for Angelman syndrome.
• Measuring Communication Ability in Clinical Trials: A Caregiver-Centered Approach for Angelman Syndrome
  Explore Dr. Bryce Reeve’s development of the Observer-Reported Communication Ability (ORCA) measure for Angelman Syndrome. A caregiver-centered tool for clinical trials, capturing unique communication methods.
• Patient Focused Drug Development
  Explore the importance of patient-focused drug development and advocacy for the rare disease community. Learn how engaging with regulators, Congress, and stakeholders can make a difference in patients’ lives.
• Progress Toward ATF and CRISPR Therapies for Angelman Syndrome
  Explore Dr. Dave Segal’s research on ATF and CRISPR therapies for Angelman Syndrome, highlighting gene-targeted treatments and the potential to restore UBE3A expression.
• Stem Cells in Focus: The Role of Glia Cells in a Potential Treatment for Angelman Syndrome
  Explore the role of glial cells in treating Angelman Syndrome with Dr. Alvin Wang. Learn about the use of iPSCs in disease study and promising research funded by FAST.
• Stronger Together: The Importance of Collaboration in Rare Disease Advocacy
  Explore the importance of collaboration in rare disease advocacy with Annie Kennedy. Learn about the Every Life Foundation’s work, policy priorities, and tools for advocacy. Together, we can make rare not rare.
• The Novel Large Deletion Mouse Model of AS: How Can it Help us in Drug Development for Angelman Syndrome?
  Explore Dr. Xiaona Lu’s research on the novel large deletion mouse model of Angelman Syndrome, its generation using CRISPR genome editing, and its potential in drug development.
• Transformatx Update: Hematopoietic Stem Cell Gene Therapy Program
  Explore Transformatx’s lentiviral gene therapy program, ube-cel, aimed at treating Angelman syndrome. Learn about its administration process, previous successes, challenges, and future plans.
• Understanding Critical Clinical Outcome Assessments (COAs) Used in Clinical Trials
  Explore Dr. Sadhwani’s insights on critical clinical outcome assessments (COAs) in clinical trials, their types, characteristics, and their role in evaluating treatment effectiveness.
• Update on the GTX-102 program for Angelman Syndrome
  Get the latest update on Ultragenyx’s GTX-102 program for Angelman Syndrome. Learn about the Phase 2 trial, significant improvements observed, and future plans for this promising investigational drug.
• Updates on ALDEBARAN, a Phase 2a Trial in Angelman Syndrome
  Get the latest updates on the ALDEBARAN Phase 2a trial studying the effects of Alogabat on Angelman Syndrome deletion patients. Presented by Roche Pharmaceuticals at the 2023 FAST Science Summit.
• Using CRISPR activation (CRISPRa) to Upregulate the Existing Gene Copies as a Novel Therapy for the Deletion Genotype of Angelman Syndrome
  Explore Dr. Nadav Ahituv’s innovative approach using CRISPR activation (CRISPRa) as a potential therapy for Angelman Syndrome. Discover the power of gene regulation in treating genetic diseases.
• miRNA-based UBE3A Unsilencing for a Potential One-Time, AAV-Mediated Gene Therapy for Angelman Syndrome
  Explore ENCODED’s innovative AAV-mediated gene therapy for Angelman Syndrome. Harnessing the power of gene regulation, they aim to unlock the potential of gene therapy for pediatric CNS disorders.