Conference Day Two

8:30 am Morning Coffee & Registration

9:20 am Chair’s Opening Remarks

Diversifying Your Nonclinical Gene Therapy Data Packages for Improved Translatability to the Clinic

9:30 am Describing AAV-Driven Safety Findings (Depatotoxicity & Peripheral Neuropathy) in the Non-Human Primate & Potential Translatability

  • Eloise Hudry Associate Director - Cell, Gene Therapy & Preclinical Safety, NIBR


  • Outlining the future of preclinical development: Is in vivo modelling on the way out? Presentation of retrospectively analyzed data from preclinical non-human primate (NHP) studies to establish the time course of self-complementary AAV9(scAAV9)-related toxicology findings after systemic or intrathecal administration.
  • Investigation of the potential triggers (capsid versus transgene) for such toxicities in the cynomolgus macaque, the pathological mechanisms at play and of the impact of immunomodulatory agents.
  • Comparison/contrast between those nonclinical results with clinical findings.

10:00 am Developing a Tissue-Restricted AAV for the Treatment of FA: Safety, Efficacy and IND enabling studies


  • AAV vector encoding frataxin is safe and efficacious across a broad dosing range
  • CNS and Cardiac tissues are effectively targeted from rodents to primates
  • Clinical strategy to target both CNS and cardiac manifestations of FA

10:30 am Morning Refreshments & Networking


Ensuring Optimal Vector Distribution to the CNS & Undertaking Distribution Studies

11:30 am Translating Vector Biodistribution Studies: Scaling up From a Smaller to Larger Brain


  • Understanding the effects of scaling up from NHP to human brains
  • Determining how underlying physiology effects biodistribution in both NHP and human brain
  • Solving the complexities of scaling up biodistribution studies

12:00 pm Comparing Biodistribution of AAV9 Vs. PHP.eB in Macaque Models Following Intracerebroventricular (ICV) Route of Administration

  • Michal Fortuna Scientist II, NHP Biodistribution Lead, Allen Institute


  • Presenting results of head-to-head comparison of two leading viral vectors delivered ICV in Macaca nemestrina 
  • Revealing brain-wide histological analysis and outlining opportunities and limitations of ICV delivery for CNS gene therapy
  • Understanding biodistribution and route of administration studies in Non-human Primate models


Progressing Clinical Gene Therapy Programs & Monitoring Vector Uptake in the Clinic

11:30 am Case Study: Highlighting Progress in a Gene Therapy Clinical Program for ALS


  • Outlining the study design for an ALS gene therapy program
  • Delving into the successes and learnings from the trial so far
  • Future expectations and hopes for progression

12:00 pm Highlighting Recent Clinical Data & Utilization of Novel Biomarkers in Parkinson’s Disease Gene Therapy Trials


  • Our ongoing clinical imaging study in preparation for our clinical trial
  • Use of novel biomarkers in neurodegenerative (PD) gene therapy trials

12:30 pm Lunch

Addressing Safety & Immunogenicity Concerns Associated with Neurological Gene Therapies

1:30 pm Utilizing Non-Viral Vectors to Allow for Redosing of CNS Gene Therapies


  • Improving CNS biodistribution studies in rodent and NHP models
  • Utilizing advancements in tools to progress biodistribution
  • Advancing analytical methodologies used in biodistribution

2:00 pm Roundtable Discussion: Crossing the Blood Brain Barrier with Novel Viral Vector Technology

  • Sarah Jacobo Global Gene Therapy & Vectorology Lead, Takeda Pharmaceutical Co. Ltd.


  • Revealing preclinical data on preclinical modelling for an AAV vector
  • Understanding safety and efficacy considerations
  • Expanding on viral vector delivery to the CNS and considerations for translatability

Confronting Challenges with Gene Therapy Clinical Study Design for CNS Gene Therapies

1:30 pm Identifying Starting Points for Disease Intervention & Gene Therapy Treatment in Neurological Disorders


  • Evaluating impacts on vector uptake in the central nervous system
  • Understanding metabolic factors effecting vector uptake
  • Understanding patient life history and lifestyle in vector uptake

2:00 pm Early Screening & Diagnosis of Neurological Disorders as a Means of Accelerating Gene Therapy Clinical Trials with Earlier Identification of Disease Benefits in Gene Therapy Clinical Trials: A Framework to Assess Disease-Modifying Therapies

  • Dorota Gruber Assistant Chief, Pediatric Cardiogenomics, Cohen Children's Medical Center


  • Reviewing the status of the NBS for neurological disorders.
  • Providing a framework for including neurological disorders in the NBS program. Examining lessons learned from NY NBS Duchenne pilot.
  • Reviewing ethical, legal and social implications (ELSI) associated with early screening and diagnosis of late-onset neurological conditions.

2:30 pm Afternoon Refreshments & Networking

Strategizing to Gain Regulatory & Commercial Success for Neurological Gene Therapies in the USA

3:00 pm CMC Considerations: Global Strategies for the AAV Vector for Glycogen Storage Disease Type Ia Treatment

  • Jan Panteli Director, Upstream Process Development, Ultragenyx Pharmaceutical Inc


  • Acknowledging need for a robust, productive manufacturing process and CMC
  • Outlining Downstream Process Improvements
  • Unique challenges with Glycogen Storage Disease Type Ia Treatment

3:30 pm Creating a Commercially Successful Product to Treat Rare Disorders


  • Exploring strategies and collaborations to ensure success of a therapy for rare and ultra rare disorders.
  • Discussing rare disease stakeholders: objectives, goals, accountability, transparency and communications.
  • Developing a roadmap for a successful product for ultra-rare disorders.
  • Cost breakdown for rare disorder’s gene therapies development – a case study 

4:00 pm End of Conference Day Two