Pre-Conference Workshop Day

Monday, November 28, 2022

Please note, some Workshop Leaders will be presenting virtually, please see the full event guide for more details

Workshop A
Biomarkers & Outcome Measures: Leveraging Lessons Across Disorders

8:00 am Understanding the Optimal Endpoints for Neurodevelopmental Disorder Symptoms & How Biomarkers Can Be Implemented to Complement Trial Design While Meeting Regulatory Standards


Despite having seen an increase in companies entering the clinic for rare CNS and neurodevelopmental therapeutics, there are still challenges in defining objective and sensitive biological outcome measures. While these challenges remain, the development of translational and quantitative biomarkers provide promising results to support outcome measures in drug development. With more companies approaching the clinic, there has never been a better time to explore what biomarkers can tell us about molecular target engagement, treatment and pharmacodynamic response.

This workshop will cover:

  • Exploring fluid biomarker development in rare diseases
  • Leveraging emerging technologies to identify potential PD and / or
    response biomarkers
  • Determining the importance of understanding biodistribution and target efficacy, and what should be incorporated going forwards what should be incorporated going forwards
  • Utilizing functional biomarkers such as quantitative EEG, sleep and behaviour in clinical studies
  • Exploring digital technologies supporting biomarker efforts and how they have been implemented following regulatory guidance
  • Understanding what regulatory considerations need to be made when developing functional biomarkers to be used in the clinic

Workshop B
Rett & Fragile X Syndrome: A Breakdown of Disease Pathophysiology

11:30 am Unravelling the Latest Research in Disease Pathology to Explore Future Considerations in Drug Development


With both Rett and Fragile X Syndrome having experienced recent clinical failures, there remains a need for greater disease understanding. Despite differing severity of clinical presentation and molecular etiology, the impairment of synaptic function as well as plasticity is seen in both diseases. Here, we will deep dive into recent advances in disease understanding to encourage successful and predictive results in future clinical studies.

This workshop will cover:

  • Discovering what the last 12 months has brought for our understanding of Rett and Fragile X Syndrome
  • Exploring essential considerations from an enhanced disease understanding: outcome measures and trial design
  • Identifying what gaps in research need to be explored in the future to achieve clinical success

Workshop C
CDKL5 Deficiency Disorder: A Deep Dive into Disease Biology

3:00 pm Outlining Recent Advances in Disease Pathophysiology


While there are currently no disease modifying therapies for CDKL5, our Workshop Leaders: disease understanding is advancing. From pathophysiology to CDLK5 function and associated signal transduction pathways, this workshop will share pre-clinical developements and explore novel research models to advance your knowledge and expertise one step closer to the clinic.

This workshop will cover:

  • Exploring our current understanding of syndrome. Where are we now?
  • Identifying best tools in pre-clinical research from iPSC cells to animal models
  • A deep dive into the strategy of severity assessment in CDKL5 deficiency