Conference Agenda

18th Orphan Drugs & Rare Diseases 2022 Americas
Conference Day 1

Day 1: Tuesday - 29th November 2022


  • Impact of new innovations to patients and caregivers
    What difference do these recent innovations have made to their lives?
    What must be done to accelerate innovations and broaden access at the same time?
    What challenges still remain to increased equity for people living with a rare disease and their families?

Wendy Erler, Head of Patient Experience and Insights, Alexion Pharmaceuticals, Inc.


Christine Von Raesfeld, Founder/CEO, People with Empathy
Neena Nizar, President & Founder, The Jansens Foundation

  • What innovative changes are coming in research, clinical development, manufacturing, registrational paths, and
    commercial models that will impact the rare disease community
  • Insights and recommendations for those preparing for their go-to-market
  • Stakeholders collaboration to continue fulfilling unmet needs?
  • What R&D strategies can be implemented to accelerate the market access for orphan drugs?
  • Challenges in bringing orphan drugs to patients after approval


Craig Martin, CEO, Global Genes


  • How an EAP aligns with orphan drug development and commercialization plans
  • Impacts of CoVid-19 on the Early and Expanded Access environment
    The role of Real World Data and how EAP’s can provide an ideal platform to collect the data.
  • EAP’s as a long term plan for the launch in non-commercialized countries
  • Practical guide to initiating a successful EAP

Robert Donnell, Executive Vice President, Medicines Access, Smartway Pharma

  • Best practices to implement an early access program and how companies proactively include in their global strategy
  • Optimal timing to implement an early access program
  • Discuss the considerations around charging for a medicine in this setting
  • How early access can be part of a company’s ESG strategy

Robert Keel, Executive Vice President of TannerMAP, Tanner Pharma Group

  • Finding, engaging, and genetically screening patients outside of traditional academic sites can improve the patient experience, decrease time to diagnosis, and accelerate trial enrollment for hard to find rare disease patients.
  • Attendees will gain insights gleaned from our most impactful genetic screening programs, implementing genetic testing programs and working collaboratively with patient advocacy groups.
  • Success in rare disease clinical trial enrollment and retention necessitates expanded access, more inclusive outreach strategies, and technology-driven solutions.

Ashley Cannon, PhD, MS, CGC, Clinical Program Manager, Life Sciences, InformedDNA

  • How is this advanced therapy fundamentally changing the way rare diseases patients are treated?
  • Improving clinical development by new-age clinical trial design and recruitment
    An effective framework for developing the delivery system for the next generation of medicine
  • Making manufacturing and commercialization viable
  • Unconventional payment models to ensure innovative treatment can be accessed by rare disease patients




Kelly Athman, Sr. Director, Medical Affairs, InformedDNA
Monica L Weldon, President/CEO/Founder, SYNGAP1 Foundation
May Orfali, EVP and Chief Medical Officer, Sigilon Therapeutics, Inc.


  • LHON, a rare disease
  • Lumevoq clinical development and regulatory pathways
  • Main results of the pivotal studies
  • Key learnings

Magali Taiel, Chief Medical Officer, GenSight-Biologics

  • How allogeneic cell therapy can be a transformative treatment for rare diseases as well as for more prevalent diseases like Type 1 Diabetes
  • How to predict in pre-clinical studies an allogeneic environment
  • What are the lessons from the first Human studies in Hem A with allogeneic cell therapy
  • What are the main challenges

Rogerio Vivaldi, President, CEO, Sigilon Therapeutics Inc.

  • Various aspects for clinical trials in rare diseases
  • Innovations and flexibility required for appropriate clinical research programs
  • Totality of clinical data and patient insights related to therapies for rare diseases
  • How clinical research and regulatory review in rare diseases can be improved in the years ahead

Shane Hegarty, Chief Scientific Officer & Co-Founder, AXONIS Therapeutics, Inc.

  • High sensitivity digital endpoints can provide unique disease insights
  • Regulators accept clinically meaningful digital endpoints for drug approval, when captured with valid and
    suitable technology
  • Health authority qualified digital endpoints can revolutionize pivotal trial design and post-approval disease

Paul Strijbos, Advanced Neurotechnology Innovation Leader, Roche

  • Challenges
  • Opportunities
  • Partnership – Patient Advocacy/Research community/Physician community

Sanjeev Luther, President, CEO & Chairman of the Board, Cornerstone Pharmaceuticals

  • Gene therapy challenges
  • Latest regulations for cell and gene therapy medicinal products
  • Better delivery system in place for efficient gene therapy transfer
  • Reimbursement models for gene therapies
  • Gene therapies in the pipeline
  • What innovative technologies in clinical trials on rare diseases are available to speed-up development?
  • Limitations and challenges of these technologies
  • Considerations for developing orphan drugs required to advance biomarker and endpoint use in clinical development

Monica L Weldon, President/Chief Executive Officer, SYNGAP1 Foundation

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