24-26 September 2018

  • Legislation incentivizing the pharmaceutical industry to invest in therapeutics for rare diseases
  • Advances in sequencing that made orphan drugs development faster and cheaper
  • Overcoming the downside trend of abuse on the financial incentives for rare-disease drug development
  • Avoiding backlash to the hefty price tags of these medications

Reserved. (TBC shortly)

  • What are the challenges and how they can be addressed?
  • Overcoming the issues of misdiagnosis
  • Challenges facing clinicians who care for affected individuals
  • Challenges to investigators regard the difficulty and expense of assembling large cohorts of affected individuals for study, and garnering funding for research

Moderator: Alison Schecter, Global Rare Diseases, External Opportunities, Sanofi Genzyme
Panelist: Radhika Tripuraneni, Vice President, Medical Affairs, Prothena Corporation Plc

In this talk we shall explore:

  • The key attributes of a successful orphan drug launch
  • Examples of a successful orphan drug launch

Anthony J Arleth, Managing Director, Pennside Partners

  • Understanding the global rare disease policy landscape
  • New steps to meet the challenges of rare diseases
  • What are the key elements across diverse rare disease programs and how this can affect patients access to care
  • Bridging gaps between policy and practice to guarantee access for patients

  • Trends in Orphan Diseases partnering deals
  • Orphan diseases partnering agreement structure
  • At which stage of the drug development does in-licensing occur and what is the reason for this trend?
  • What criteria do partners look for when partnering for in and out-licensing?

Moderator: Brian Bronk, Head of External Innovation, Rare Diseases, Sanofi

  • Case study: RVT-802 for the treatment of Complete DiGeorge Anomaly (cDGA)
  • Overview of expedited regulatory pathways available for innovative rare disease therapeutics
  • Managing multi-stakeholder collaboration including academia, patient advocacy, government, and industry
  • Novel strategies to promote patient/market access

Alvin Shih, CEO, Enzyvant Therapeutics

• Gene therapy is often most beneficial in pediatric patients; however, AAV vectors are non-replicating and hence transgene expression is expected to wane over time as patients grow
• It would be desirable to be able to re-treat patients in life, but the formation of neutralizing antibodies against AAV gene therapy vectors prevents the ability to re-dose AAV
• We have developed synthetic vaccine particles encapsulating rapamycin (SVP-Rapamycin) that have been shown to mitigate immunogenicity against a variety of biologic drugs by inducing immune tolerance to the biologic
• We will present pre-clinical data demonstrating the ability of SVP-Rapamycin to inhibit the formation of anti-AAV antibodies and successfully enable repeat administration of gene therapy in animals and share data from an ongoing Phase 2 clinical trial of SVP- Rapamycin combined with a therapeutic enzyme
Kei Kishimoto, CSO, Selecta Biosciences

Kei Kishimoto, Chief Scientific Officer, Selecta Biosciences

Screening strategies and logistics to reach patients Biomarker development and implementation as a
Understanding the epidemiology of the disease to streamline a diagnostic strategy

Justin Bingham, Vice President of Business Development, Centogene

  • Efficiencies in developing well-characterized molecules in novel targets in rare diseases
  • Speeding up the drug development process to rapidly deliver treatments to patients
  • Diversifying a pipeline of potential treatments

David Cory, President and CEO, Eiger Pharmaceuticals

Beyond one disease at a time: Platform approaches to rare disease therapeutics development

  • High – throughput screening for drug repurposing
  • “Basket” trials of drugs targeting shared molecularetiologies
  • Gene therapy and gene editing
  • Platform approaches to clinical trials

Philip J. Brooks, Program Director, Division of Clinical Innovation , NCATS, NIH

16.00 - SHARED PLATFORM: Unlocking the power of genetics in rare disease drug development

• Importance of disease insights to guide development
• Role of increasing access to genetic testing to aid early and accurate diagnosis
• How sponsored genetic testing programs can help patients and clinicians to position for long-term success

Katherine Stueland, Chief Commercial Officer , Invitae Nan Doyle, Senior Manager – Diagnostics , Alnylam Pharmaceuticals

  • 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

Senior Representative, Alexion

  • 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

Tim Miller, Co-Founder, President and Chief Scientific Officer, Abeona Therapeutics Inc.

  • Patient recruitment and retention for a successful clinical trial in rare diseases
  • How can you prepare healthcare providers to know about the therapy and identify the right patients for your therapy?
  • How can developers make research goals and use of data to be transparent and to be informed about progress or roadblocks in order to build a relationship based on trust with patients?
  • What enhanced ongoing patient support beyond the clinic can be provided to encourage positive relationships between patients and healthcare providers?


Christian Girard, Co-Founder & CEO, Overlord Pharmaceuticals
Panelist: Leslie Leahy, VP, Medical Sciences, Ovid Therapeutics
Panelist: Luke Rosen, Head of Patient Engagement, Ovid Therapeutics
Panellist: Khrystal K. Davis, CEO and Patient Advocate, Zebra Leaf Publishing
Panellist: Mahesh Kolar, Vice President, Strategy and Business Development , Rarity Health

Putting a name to the rare disease
• Growing up with a fatal hereditary rare disease in my family and knowing I had a 50/50 chance of getting it
• The disease took the lives of 12 family members before we were given a name Hereditary Sensory Autonomic Neuropathy Type 1E (HSAN1E)
• It was through genetic testing from my brother and sister we were able to get a diagnosis.
• Caregiving for my brother and sister
• Deciding to get tested for HSAN1E, living with a negative result
• Starting a non-profit to find other families with HSAN1E

Rachelle Dixon, President / Co-Founder, HSAN1E Society

  • Why must we ask why there is no treatment?
  • How can we achieve the goal?
  • The way forward

Richard A. Basile, Co Founder and CEO, BioPontis Alliance for Rare Diseases

  • Review of drivers of pre-approval drug access and the “right to try”
  • Overview of relevant regulation and legislation in the US
  • Consideration of program guidelines in other countries
  • Perspectives of key stakeholders: patients, families, advocates, regulators, media, payers, companies
  • Implications for effective program planning
  • Special considerations for rare and genetic diseases
  • Best practices in program design, implementationm and evaluation

Mark Krueger , Chief Strategic Officer, MK&A Inc.

• Engaging key stakeholders: patients & caregivers, clinicians and advocacy groups
• Empowering patients (and their families) as the experts
• Understanding the patient journey - participate, listen and learn
• Building partnerships that address unmet needs
Why support must extend beyond our medicines – the role of industry in the community

Vikram Karnani, Executive Vice President, Chief Commercial Officer, Horizon Pharma

• What are the unique needs of collaborations for rare
disease patients?
• What are more novel areas for collaboration? unmet
needs, diagnosis, access, ancillary support
• What are novel methods and models for collaboration?
• Which other stakeholders should be involved and how? • What’s the ideal we should strive for?

Jodie Gillon, Global Medical Lead, Patient Engagement Rare Diseases, Pfizer Inc.
Isabelle Lousada, CEO & President, Amyloidosis Research Consortium

• Patient participation in rare disease management is critically important for success
• Trusted and purposeful relationships between patients and pharmaceutical companies drives patient resources and support programs
• CASE STUDY: Rarity’s 360° Patient Experience

Mahesh Kolar, Vice President, Strategy and Business Development, Rarity Health

• How are activists carrying the collective voice of the patients and represent the patients’
• How can leading groups advance understanding and awareness of rare diseases by unifying patients

Moderator: Richard A. Basile, Co Founder and CEO, BioPontis Alliance for Rare Diseases
Panellist: Khrystal K. Davis, CEO and Patient Advocate, Zebra Leaf Publishing
Panellist: Michael A. Swit, Esq., FDA Legal Counsel, Law Offices of Michael A. Swit
Panellist: David Cory, President and CEO, Eiger BioPharmaceuticals
Panellist: Mahesh Kolar, Vice President, Strategy and Business Development, Rarity Health

  • Current situation in Europe from a regulatory and a market access perspective
  • Pricing and reimbursement: key success factors
  • Case studies: stories of success and failure
  • Strategic implications for biopharma companies, planning to expand into Europe

Matthias P. Schönermark, Managing Director, SKC

• Strategy of providing early access in OD
• Key logistics in providing early access
• From early to greater access

Stephan Toutain, SVP, Operations, Anavex Life Sciences

• We are committed to treating rare and ultra-rare diseases
• Drug development is a team sport and it is critical to attract and retain top talent
• Collaboration across the organization is necessary for advancing programs effectively

Bob Ward, Chairman, Chief Executive Officer, Eloxx Pharmaceuticals

  • Successful example of value-based pricing in Rare Disease
  • Potential changes in treatment paradigms to improve effectiveness and reduce cost of treatment
  • Implementing measures designed to limit their exposure to costs associated with orphan drug reimbursement.
  • Legislative incentives to encourage development of orphan rare diseases therapies
  • Impact of orphan diseases treatment on healthcare payment system

Moderator: Christian Girard, Co-Founder & CEO, Overlord Pharmaceuticals
Panellist: Matthias P. Schönermark, Managing Director, SKC
Panellist: Stephan Toutain, SVP, Operations, Anavex Life Sciences
Panellist: Bob Ward, Chairman, Chief Executive Officer, Eloxx Pharmaceuticals
Panellist: Ken Kengatharan, CEO, Auxesia Orion and Managing Partner, Atheneos Ventures