Rare Disease Advocacy World

Rare Disease Advocacy World, Wednesday 25 April 2018





last published: 19/Mar/18 14:25

Rare Disease Advocacy World, Thursday 26 April 2018



Katherine High

Keynote address: A new era in medicine- introducing gene therapy

  • What we’ve learned – lessons science has taught us as we create the path for the first gene therapy for an inherited disease in the U.S.
  • Staying true to our roots while preparing the patient, medical and policy maker communities for a new chapter in the retinal disorders textbook
  • Assessing the impact of potential one-time treatments like gene therapies for patients with rare diseases
Hans Bishop

Keynote address: Cell and gene therapy innovation and their role in the future of rare disease research

  • Current state of cell and gene therapies and why this field is becoming more and more significant 
  • Looking into scalability and centralized approaches for cell and gene therapy development and commercialization
  • Novel approaches and how these therapies benefit the continuum of research for rare diseases
Andre Choulika

Keynote address: Next- generation CAR T-cells to cure cancer - paving a new way for R&D, value-assessment and pricing and reimbursement of treatments for genetic diseases

  • Learnings from CAR-T development that can be applied to rare disease drug development 
  • Will CAR therapy pricing impact pricing schemes of other orphan drugs and gene therapies? 
  • Exploring aspects of these different therapeutic areas that share common goals, personalization and pricing challenges 
Panel discussion

Keynote CEO Panel: Gene therapy - a new paradigm for patients, new challenges for industry

  • Looking back at the commercial performance of the first generation of gene therapies- from proof of concept to the road to approval 
  • How will gene therapy innovation look in the next 10 years?
  • Considering potential new value propositions for patients, payers and the health care system
  • Strengthening clinical development, exploring novel technologies while maintaining safety- what needs to be improved? 


Gene Track

Rare Disease Advocacy World

Genetic Testing, Genome Sequencing

Influencing Drug Development

Christopher Missling
Rare Disease Advocacy World

Empowered educated patients influencing pre-clinical development and working with industry to optimize drug discovery

  • Patient groups role guiding research, disease understanding, supporting pre-clinical development and follow up experiments 
  • Driving translational research and the influence on formulation, routes to delivery and overall clinical development 
  • Effective partnerships between advocacy and industry to expand collaborations that can support enrollment and physician engagement
Preston Campbell
Rare Disease Advocacy World

Patient advocates taking a real stand in drug development: how the Cystic Fibrosis Foundation worked with biotech and pharma to find a cure

  • Research funds and initiatives coming from grassroots advocacy and support, not from pharma 
  • Uniting the CF community with drug developers through transparency and the pursuit of a common goal
  • Fueling motivation from all involved parties to continue with the co-development of drugs
  • What is the applicability of this model to other rare diseases?
Rare Disease Advocacy World

The post market patient and patient advocacy- Acknowledging that with approval, the work is not done

  • How can patient groups keep encouraging orphan disease research and investments after approval?
  • Rare disease clinical development when approved treatments are available.
  • Opportunities to reduce delays to access prior to approvals
  • Post-marketing engagement to improve and expand patient access – engaging with multiple new stakeholders.
  • Working synergistically with industry counterparts to educate the physician community, delivery centers, and payers.
Julia Jenkins
Rare Disease Advocacy World

Conceptualizing a FDA Center of Excellence for Rare Diseases

  • How do we leverage the expertise across FDA review divisions so that they can harmonize regulatory approaches related to the complexities of clinical trial designs and endpoints for small heterogeneous patient populations?  
  • How can we increase collaboration with international regulatory agencies to allow for clinical trial designs to be accepted across multiple agencies, especially when no established regulatory pathways to approval exists?   
  • What can be learned from the successes and challenges in the FDA Oncology Center of Excellence?
Rare Disease Advocacy World

Inclusion of patient reported outcomes (PROs) in rare disease trial design

  • Capturing patients’ bona-fide needs, preferences, and value drivers through systematic investigation
  • Adoption of end- to-end patient evidence generation pathways to increase the probability of success 
  • Enabling payers and providers to better understand patients’ values
  • Developing meaningful patient reported outcomes and producing further evidence to support approval


Yann Le Cam

Lunch keynote address: Breakthrough therapies call for breakthrough processes to ensure sustainable patient access


2:30 ROUNDTABLES (1-hour roundtable sessions split between 2 rounds of 30min – attendees can select two roundtables to attend)

If you are interested in sponsoring a roundtable contact André Singer at andre.singer@terrapinn.com or +1 646 619 1797

ROUNDTABLE 1: Pediatric trials - reducing the financial, logistical and emotional burden for patients and families participating in pediatric trials

Andrew McFadyen

ROUNDTABLE 2: Compassionate Use Programs - helping patients get access to medication, educating the community, physicians and investors to ensure safe access to experimental treatments

Scott Schliebner

ROUNDTABLE 3: Virtual Trials - enabling clinical trials to be more virtual, reducing distance times, overcoming geographic barriers and increasing data collection through the use of wearables

Jayne Gershkowitz

ROUNDTABLE 4: Expanded access - incorporating the patient advocacy perspective to develop a review process and a formalized procedure on expanded access

Joseph Musumeci

ROUNDTABLE 5: BD & Forecasting - pricing and access considerations and understanding how to build the patient forecast based on available epidemiological information

Yvette Venable

ROUNDTABLE 6: Strategy - patient engagement and pipeline building for the commercialization and access of rare disease products

Francesca Cook

ROUNDTABLE 7: Gene therapy – new payment and financing models are needed to facilitate access

Michael Murphy

ROUNDTABLE 8: Clinical development – When the sum is greater than the parts through academic, pharmaceutical and CRO collaboration in orphan disease drug development

Robert Donnell

ROUNDTABLE 9: Managed Access Programs - How MAPs (pre-commercial supply to patients with unmet medical needs) can be a valuable component of launch strategy for orphan drugs

Samantha Parker

ROUNDTABLE 10: Gene therapy - Optimizing gene therapy clinical development through education, collaboration, patient input and involvement in advisory boards

Philip J. Brooks

ROUNDTABLE 11: Scientific innovation - platform approaches to evaluate multiple genetic diseases at the same time

David Lapidus

ROUNDTABLE 12: Epidemiology and forecasting - using epidemiological data to determine market viability, niche populations and commercial differentiation

Betsy Ricketts

ROUNDTABLE 13: Government affairs - developing a company’s footprint and contributions to impact policy, reimbursement and patient engagement

Anne Cropp

Roundtable 15: Expanded Access - drug development strategy considerations for open label extension or expanded access protocols

Ari Brettman

ROUNDTABLE 16: VC funding – successfully addressing investors interests and challenges when assessing companies of all sizes to guarantee funding of orphan drug biotechs

Trista Morrison

ROUNDTABLE 17: Disease awareness - best practices and tips for smaller companies to tell a corporate or rare disease story and raise awareness


Emerging Markets

Let’s get practical

Ron Bartek
Rare Disease Advocacy World

Beyond “patient focused drug development” buzzwords - let’s get practical

  • Industry and patient partnerships for clinical trial design and execution, funding discussions and community  outreach
  • Patients as board members through the product lifecycle to impact the needs of the community
  • Partnering with patients in a compliant way and achieving support from government and academic institutions to drive scientific research 
Cristina Klafehn
Rare Disease Advocacy World

Cross-functional education of internal stakeholders while maximizing patients’ opportunities through the product lifecycle

  • Creating a strategic plan to address patient advocacy across the spectrum of pharmaceutical functions 
  • Presenting opportunities for patients to engage with regulatory   agencies at preclinical and clinical stages
  • Incorporating the patient perspective to influence endpoints, recruitment, retention, etc.
Tricia Mullins
Rare Disease Advocacy World

Collaboration of board members & rare disease non-profits

  • NDF strategic partnerships to expand research Successful completion of International Symposium 2017
  • Certification of NDF Patient Advocates
  • Growing advocacy initiatives globally Improving education and awareness 
  • Best practices of Board Members



Douglas Ingram

Keynote panel: How rare disease companies are ramping up innovation to boost orphan drug development and patient centricity

  • Incorporating patients in the drug development process and working towards commercial viability- how to fully engage? 
  • How do you view disruptive therapies such as (gene therapy/gene editing) impacting the broader orphan disease development paradigm? How are you innovating within your company?
  • Responding to the changes in the political, regulatory and reimbursement landscape while guiding the direction of rare disease companies 
  • How to achieve industry collaboration and idea exchanges that can better serve the patient community? 

6:20 NETWORKING COCKTAIL PARTY – Reserved for Gold Sponsor

last published: 19/Mar/18 14:25