Conference Agenda

Orphan Drugs Conference Day 1

Day 1: 10th September 2019

14:00 - Attend any of the 3 Topic Focus Streams

Regulatory, Commercial & Current Trends

Improving the precision of precision medicine: scientific and policy challenges

- Despite the rapid growth of precision medicine, its use in the clinic is still limited.

- Technical issues, including a lack of standards and issues surrounding data reproducibility, slow the discovery and translation of targeted therapies.

- Translation of promising therapies to the clinic requires novel approaches to regulation, payment, and patient/provider education.

- Expansion of precision medicine will rely on the development and effective use of real world-data, open-access resources, and other innovations.

David Litwack, Director, Regulatory Strategy and Communications Prevails Therapeutics

The role of patients organizations in approval, pricing and reimbursement of new therapies

-Acting as the honest broker

-Patient preferences

-Improving endpoints

Isabelle Lousada, President & CEO, Amyloidosis Research Consortium

When building a commercialization platform for an asset for the management of rare disease, In-sight Mining associated with the Patient Path, Disease Burden and Unmet Needs are critical to establishing a product value proposition

- Need for Education Platforms generating Disease awareness, and facilitating path to early diagnosis

- Referral to Centers of Excellence offering a multi-disciplinary expert management and collaboration with the patient advocacy.

- Case studies will be highlighted

Haya Taitel, SVP, Chief Commercial Officer, Kadmon Pharmaceuticals

Asia – the rare disease final frontier – is this where innovation will be found in the 2020’s?


Robert (Bob) Ward, Chairman & CEO, Eloxx Pharmaceuticals

Challenges around the pricing and reimbursement of EDRDs

- EDRDs are a fast growing market segment

- EDRDs are more likely to generate high sales than commonly-used drugs

- The opportunity costs for payers are significant

- Pricing and affordability are barriers to access

- The proposed Canadian pricing framework expected to make prescription drugs more affordable

Elena Lungu, Manager, Policy Development, Patented Medicine Prices Review Board, Canada

Speakers Forum: Q & A - Orphan Drugs: Current landscape, Drivers and Future trends

-What are the growing trends in Rare Disease treatment?

- How can governments and orphan drug companies help support each other’s initiative to provide access to patients?

- 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


Access & Collaborations

Mike Page, Executive Director, Global Regulatory Affairs, Alexion

Global early access programs to support rare indications

This session will provide key insights into the development and execution of global pre-approval access programs, including:

- Considerations for successful program

- Runway for effective early planning

- Scope considerations -individual vs. cohort programs in global territories

The skinny of data in early access program

Anne B. Cropp, Chief Scientific Officer, Early Access Care LLC

Mobilizing Your Rare Disease Community: A Patient Organization's Role in R&D

Tools for patients and caregivers to play an active role in accelerating therapeutic development.

 >   How to identify rare communities with similar challenges

 >   Forging efficient collaborations within the scientific, biotech and patient communities

 >   A foundation's role in pre-clinical researchImportance of clinical trial readiness

 >   Advocacy for regulatory approval

Luke Rosen, Founder, KIF1A.ORG / VP, Patient Engagement & Gov't Affairs, Ovid Therapeutic

Why Do Sponsors with Orphan Disease Therapies need to be in Latin America?

- Opportunities – Landscape and Logistics

- Challenges – Culture and Complexities

- Case studies: Pediatric & Adul

Sara Tylosky, CEO and President,

Raring to Go for CHI!: Collaborations to Improve the Lives of People with Congenital Hyperinsulinism

 >   A Patient Partnership with Clinicians, Researchers, Nonprofits, and Biotech/Pharma

 >   Patient-Powered Natural History for New Treatments and a Cure

 >   Access to Genetic Testing and Existing Treatments

 >   Improved Clinical Trial Operations, Protocol Design, and Expanded Access

 >   Pilot Research Projects

 >   Travel funds at Centers of Excellence

 >   Physician and Patient Education Awareness through Conferences and Social Media

 >   Family Support Forum

Julie Raskin, Executive Director, Congenital Hyperinsulinism International

- Drug Development Resources for Rare Disease Advocates: from Pre-Clinical to Post-Market

 >   How the PMS Foundation has navigated the discovery stage of drug development

 >   New Resources available to rare advocacy groups trying to navigate the drug development process

 >   When should groups start working toward drug development? NOW

 >   How do they gets started? - Ask for help and check out the resources from NCATS

Megan O’Boyle Principal Investigator, PMS International

Ensuring Patient access and affordability for Rare diseases

 >   Identifying barriers for access to orphan drugs

 >   Addressing the challenges associated with patient access to these medicines

 >   High cost associated with the medicines: Is paying for expensive treatment for a few patients sustainable?

 >   Means of ensuring access and affordability of Orphan drugs

 >   Establishing a reasonable price for orphan drugs


Mike Page, Executive Director, Global Regulatory Affairs Alexion

Innovations, Clinical Development & Advance Therapeutics

Khrystal Davis, Founder & President, Texas Rare Alliance, Advisory Member, Texas Newborn Screening

Platform Approaches to Rare Disease Therapeutics and the NIH Common Fund Somatic Cell Genome Editing Program


 >   Grouping multiple rare diseases by underlying molecular etiology to accelerate clinical trials: learning from oncology

 >   Overview of the NIH Common Fund Program on Somatic Cell Genome Editing

 >   The Rare Disease Clinical Research Network as a platform for clinical trials

P.J. Brooks, Program Director, Office of Rare Diseases Research, NCATS

Rethinking clinical trial design in Duchenne Muscular Dystrophy (DMD)
- The future of DMD treatment is multimodal
- Selection of study population and study design should be fit-for-purpose
- Disease progression is an individual struggle with an increasing burden
- Participation is key to success
Samuel Agus, Chief Medical Officer, Biophytis

Hermansky-Pudlak Syndrome, Trial Recruitment and Inclusivity


 >   Brief description of this rare congenital syndrome and its phenotypic presentation

 >   Lessons learned from past incomplete recruitments

      - Natural History protocols

      - Pulmonary Fibrosis Drug   Trial                 

      - GI Trial

 >   Brief description of two case histories

 >   Inclusivity in recruitment with respect to

      - Cultural difference

      - Language

      - Socio-Economic difference and “Big Medicine”

      - Disability


Samuel L. Seward, Jr. Professor & Chair, Dept of Medicine, Mount Sinai

Patients and the Value of Rare Therapies

 >   Comprehensive Economic Impact Equation vs QALY

 >   Recognizing Barriers to Access Rare Therapies

 >   Patient Advocacy to Improve Access to Rare Therapies

 >   New Therapies and New Payment Models

Khrystal Davis, Founder & President, Texas Rare Alliance, Advisory Member, Texas Newborn Screening

Gene Therapy Trial with Randomized Enrichment Design with integrated Real-World Evidence

 >   Legal foundation and regulatory pathways for innovative designs

 >   Design framework with integrated real-world evidence

 >   Virtual matched controls methodology for comparative effectiveness analysis

 >   Examples


Qing Liu, Founder & Principal QRMedSci, former Statistical Science, Amicus Therapeutics

Q & A Strategies to promote research discoveries and development of orphan products to improve the health of people with rare diseases

- Overview of current methods for their prevention, diagnosis, and treatment.

- Special challenges that rare diseases create for research and product regulation

- Current public policies relevant to product development for rare diseases

-  How are advance therapy fundamentally changing the way rare diseases patients are treated

-What are the new development in Advance Therapeutics and incentives Supporting it?

All session speakers in panel

Khrystal Davis, Founder & President, Texas Rare Alliance, Advisory Member, Texas Newborn Screening

18:00 - Networking Drinks Reception

19:00 - 21:00 - Networking Gala Dinner

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