Conference Day One

7:45 am Morning Coffee and Registration

8:50 am Chair’s Opening Remarks

Highlighting Success Stories to Re-energize your Neurological Gene Therapy Development

9:00 am Utilizing Novel Delivery & Route of Administration to Bypass the Blood Brain Barrier: A Case Study on an Approved Direct Brain Delivery Gene Therapy

  • Pannie Trifillis Vice President and Head of Global Scientific Affairs,GMA, PTC Therapeutics


  • Weighing up patient burden and therapeutic effect of bypassing the blood brain barrier with direct brain delivery for gene therapies
  • Challenges of conducting complex surgical delivery procedures in the clinic
  • Outlining opportunities and limitations of direct brain delivery for gene therapy

9:30 am Announcing a New, Minimally Invasive Endovascular Approach to the Cerebellopontine Cistern Enables Broad CNS Biodistribution of AAV9

10:00 am Morning Refreshments & Speed Networking


This session is an opportunity to connect with peers working in development of gene therapies for neurological disorders and hold in-depth conversations with some of the brightest minds to establish meaningful and lasting relationships. 

Preclinical Stream

Advancing Gene Therapy Modelling Systems for Nonclinical Safety & Efficacy Studies in the CNS

11:30 am Designing Preclinical Gene Therapy Models for Neurological Disease Indications

  • Gabriele Proetzel Senior Director - Neuroscience External Research, Takeda Pharmaceutical Co. Ltd.


  • Underlining challenges in preclinical development when working with neurological disorders
  • Selecting the right animal model systems and route of administration for nonclinical testing
  • Progressing the neurological disorders field by developing a more standardized approaches

12:00 pm Overviewing The use of Human iPSC Derived Neuronal Models to Enable Preclinical Drug Discovery in Neurodegenerative diseases for Gene Therapy


  • Understanding the value of transcriptomic characterization of models
  • Weighing pros and cons of 2D versus 3D neuronal cultures
  • On neurophysiology endpoints: methods, reproducibility, and throughput

Clinical Stream

10:59 am Investigating More Translational Gene Therapy Biomarkers & Endpoints for CNS Indications for Improved Clinical Monitoring

11:30 am Developing a Novel ATXN2-Targeting AAV Gene Therapy Treatment for Amyotrophic Lateral Sclerosis


  • Using human genetics, bioinformatics, and functional screens to identify a potent miRNA payload and an inert stuffer sequence
  • Demonstrating preclinical efficacy in disease models of ALS
  • Evaluating pharmacology, biodistribution in nonhuman primates in preparation for IND-enabling studies

12:00 pm Identifying More Translatable Gene Therapy Biomarkers for CNS Indications

  • Florian Eichler Associate Professor - Neurology, Mass General Research Institute


  • Understanding limitations of current standard biomarkers
  • Preclinical analysis of biomarkers and identifying translatable selections
  • Challenges when progressing to a human brain

12:30 pm Lunch

Identifying Targets for Neurological Gene Therapy Drug Development & Influence on Capsid Selection

1:30 pm Encouraging Results in Young Children With MPSIIIA Following Intraparenchymal AAV Gene Therapy

  • Karen Pignet Executive Assistant to Founder & Chief Executive Officer, Lysogene


  • Delving into viral vector developments including the use of antibodies for facilitative transportation across the blood brain barrier
  • Going beyond AAVs for neurological gene therapies
  • Aiding in your viral vector selection with a greater understanding of choices

2:00 pm Selecting Gene Therapy Capsid & Promoter to Overcome Toxicity Due to Transgene Overexpression

  • Francesco Lotti Director, Viral Vector Development & Assistant Professor, Columbia University


  • Outlining how this will help you to gain expression in specific cell types to your disease target
  • Presenting the case of SMN toxicity due to overexpression in sensory neurons
  • Comparing SMN expression in the nervous system of mice using different promoters
  • Combining capsid and transcriptional targeting for the selective expression of transgenes in spinal motor neurons

2:30 pm Roundtable Discussion: The Potential of Non-Viral Vectors to Successfully Traverse the Blood Brain Barrier From Gene Therapy Development


  • Outlining development of non-viral vectors for CNS targeting
  • Describing the mechanisms of action of non-viral vectors to benefit Neurological treatments
  • Surveying the horizon of development for non-viral vector development and which vector should you choose 

Optimizing Translation of Non-Clinical Data to Set Up for Successful Gene Therapy Clinical Trials

1:30 pm Confronting Challenges with Clinical Study Design for Gene Therapy CNS Treatments & Allowing Early Intervention


  • Discussing challenges in neurological gene therapy clinical trial design
  • Understanding difficulties in early identification for clinical treatment
  • Identifying biomarkers and tools for improved clinical design

2:00 pm Designing more Translatable Preclinical Rodent Models for Rare & Ultra Rare Diseases


  • Outlining challenges in nonclinical development of rare and ultra-rare disorders
  • Scaling up NHP data to humans
  • Identifying your dosage regimen and allowing for flexibility in your clinical trial design

2:30 pm Translation of Gene Therapy Brain Biomarkers from Nonclinical Science to Clinical Trials: A Case Study in Canavan Disease

  • Christopher Janson Neuroscience & Director of Human Gene Therapy Center & Principle Investigator, Myrtelle GTx


  • MRI and MRS evaluations of candidate biomarkers 
  • Preclinical assessments in a murine model
  • Clinical evidence by magnetic resonance spectroscopy in humans by standardized spectrum analyses
  • Potential uses in clinical trials to support regulatory activities

3:00 pm Afternoon Refreshments & Poster Session


The scientific poster session will serve as the perfect opportunity to showcase your recent work to your peers and allow you to learn and share insights in a relaxed atmosphere.

Discovering Different Gene Therapy Delivery Modalities for Improved Safety, Efficacy & Distribution Across the Blood Brain Barrier

4:00 pm Considering Patient Burden & Safety Associated with More Invasive Delivery Techniques to Bypass the Blood Brain Barrier


  • Weighing up the patient burden when considering routes of administration for neurological disorders
  • Considering your capsid when choosing your delivery technique
  • Factoring in physicians: Can complex surgical delivery methods be used widespread?

4:30 pm Session Hosted by ClearPoint Neuro

5:00 pm Panel Discussion: Addressing Safety Concerns Associated with Viral & Nonviral Neurological Gene Therapies


  • Considering safety and immunogenicity challenges associated with delivering viral gene therapies to the CNS
  • Looking in to dose related toxicity when using a higher dose to ensure high efficacy
  • Debating whether nonviral vectors pose more or less of a safety concern when delivering to the CNS than viral vectors

5:45 pm End of Conference Day One