7:55 am Chairperson’s Opening Remarks

Exploring New Advances in Emerging Technologies to Understand What’s on the Horizon for Rare CNS & Neurodevelopmental Disorders

8:00 am Transforming Therapeutic Development for Neurodevelopmental Disorders with Transfer RNA RNA

Synopsis

  • tRNA as a novel therapeutic modality for disease modification
  • Advantages of tRNA therapeutics relative to other RNA and gene therapy and editing approaches
  • Precision medicine and enabling the translational success of tRNA therapies

8:30 am Targeted Gene Regulation in the CNS Using Engineered Zinc Finger Protein Transcription Factors

Synopsis

  • Engineering potent and specific zinc finger transcription factors (ZF-TFs) to regulate expression of target genes
  • Characterizing and developing these AAV-ZF-TFs for therapeutic application in neurological disorders

9:00 am Approaching Antisense Oligonucleotides for Increasing Endogenous Gene Expression in Dravet Syndrome

  • Alfica Sehgal Senior Vice President, Head of Discovery and Translation , CAMP4 Therapeutics

Synopsis

  • Exploring endogenous gene upregulation and the role of regulatory RNA
  • Illuminating what the future could hold for this therapeutic target

9:30 am Speed Networking & Morning Break

Understanding Key Challenges in Translational Biology

10:30 am Organoids as a Pre-Clinical Research Model in Rare CNS and Neurodevelopmental Disorders

Synopsis

Virtual Presentation

  • Exploring efforts to use human brain organoids as in vitro system to study rare CNS neurodevelopmental conditions
  • Applications on gene therapy
  • Organoids as a potential drug screening application

11:00 am Panel Discussion – Benchmarking Pre-Clinical Research Methods to Inform Translation in the Clinic: iPSC Cells, Organoids & Animal Models

Synopsis

  • Exploring the value and caveats of different pre-clincal research models available
  • The future of pre-clinical development, patient derived iPSCs and beyond

11:45 am Microtubule Proteins as a Translational Biomarker of Disease Progression in CDKL5 Deficiency Disorder (CDD)

Synopsis

  • Central and plasma microtubule proteins are altered in Cdkl5-mice compared to WT mice
  • The observed alterations are indicative of decreased microtubule dynamics and dysfunctional neuronal plasticity
  • Plasma microtubule proteins are altered in CDD patients compared to neurotypical controls

12:15 pm Lunch Break & Networking

The Power of Patient Advocacy: Engaging Patient Groups to Maximise Patient Access

1:15 pm Outlining the Role of Community Collaboration to Urgently Drive Treatments for Rare CNS & Neurodevelopmental Diseases

Synopsis

  • Working with extreme urgency to leave no patient behind
  • Exploring lessons learned in patient groups – industry relationships from previous clinical trials
  • Paving the future landscape for industry and patient group collaboration

1:45 pm Panel Discussion – How to Establish Healthy & Productive Relationships Between Industry & Patient

Synopsis

  • Hear industry, foundation and patient advocacy perspectives on best practice industry in collaboration
  • Exploring recommendations to foster greater cooperation in drug development

2:30 pm Individualized Treatments for Rare CNS & Neurodevelopmental Disorders

  • Sarah Glass Chief Operating Officer, n-Lorem Foundation

Synopsis

  • Exploring how a non-profit organization is changing the treatment landscape for nano-rare patients, one patient at a time
  • Leveraging a powerful therapeutic platform
  • Industrializing a non-profit approach to provide hope and potentially help patients today

3:00 pm Afternoon Break & Networking

3:30 pm The Parents’ Journey Through Drug Development: How parents and patients take the lead; An Angelman Story

  • Allyson Berent Chief Scientific Officer, Foundation for Angelman Syndrome Therapeutics (FAST)

Synopsis

  • Exploring how parents have taken a huge lead in advancing therapies for their children
  • Hear examples from Angelman Syndrome clinical research about how parents can take the lead in drug development

Exploring The Current Regulatory Landscape in Drug Development for Rare Disease

4:00 pm Translating Tools Across Disease Areas to Bridge the Regulatory Research Landscape

Synopsis

Virtual Presentation

  • Exploring regulatory frameworks in rare neurological disorders
  • Applying FDA approved frameworks in rare CNS and neurodevelopmental disorders

4:30 pm Approaching Regulatory Frameworks for Clinical Outcome Measures & Biomarkers

  • Jennifer Panagoulias Regulatory Affairs and Compliance Professional, Angelman Syndrome Biomarker and Outcome Measure Consortium

Synopsis

  • Efforts to pre-competitively advance regulatory science for trials in patients with Angelman Syndrome
  • Understanding context of endpoint use across the development landscape
  • Advancing as a broader research community

5:00 pm Chairperson’s Closing Remarks

5:10 pm End of Conference Day One