Conference Agenda

Orphan Drugs Conference Day 1

Day 1: 18th November 2020

In this dynamic presentation participants will learn:

> Explore the definition of Extraordinary
> Understand that perception drives expectations which drive outcomes.
> Learn the key components Ignition, Tools, & Network for achieving the desired outcomes
> Hear stories of presenter’s sons – some hilarious, some heartwarming – to prove the extraordinary formula.


Kristin Smedley, President, Curing Retinal Blindness Foundation

- What is it like living with a rare disease?

- What impact does a rare disease have to the patient and caregiver?

- Experiences when communicating with healthcare professionals

- Social and economic implications of living with rare disease

- Addressing the needs of rare disease community during Covid19 pandemic

- How FDA evaluates the impact of the virus to rare disease patient

- What are the challenges for the system and how can they be overcome

- Rare disease therapy development and access during Covid19


Reserve for Senior Representative from U.S. Food and Drug Administration

- What innovative changes are coming in research, clinical development, manufacturing, registrational paths, and commercial models that will impact the rare disease community

- How to find the right patient and design a collaborative clinical trial?

- Developing strong economic models in demonstrating the value of subsidizing patient healthcare costs

- Establishing a well-informed sales and marketing plan

- The need for accurate forecasting to ensure successful market access

- Optimizing a supply chain management system

- Can big data improve the diagnosis of rare disease?

- Focus on data quality validation, alternative research designs and how they affect outcome assessment, and aspects of reporting and transparency

- Use of data and knowledge management to increase efficiency

- The importance of patient registries to optimize rare disease management and improve patient outcomes

- International collaboration and data transparency to increase understanding, diagnosis and developing therapies for rare diseases

13:30 pm - Choose to attend between the 2 topic streams


- Learn how to effectively integrate a digital health solution into a rare disease community


- Learn about the current concerns of the rare disease community regarding data collection


- Obtain key insights that every digital health platform should know before approaching a rare disease community


Nadia Bodkin, Rare Disease Advocacy Professional, Rare Advocacy Movement, Chief Executive Officer, Blaze Therapeutics

- Build a sustainable business strategy


- Partnering with Academia


- Partnering with Industry


Monica L Weldon, President/CEO/Founder Bridge the Gap - SYNGAP Education and Research Foundation

- How to identify 2-10X the number of pathogenic variants for specific rare diseases compared to results in genetic databases such as ClinVar.


- How one rare pharma organization realized a 55- fold increase in genomic biomarkers to qualify patients for clinical trials.


- How to accelerate the identification of genomic biomarkers for Companion Diagnostic (CDx) development, and assemble the supporting clinical evidence from the scientific literature.


Mark Kiel, MD, PhD, Co-Founder, Chief Scientific Officer, Genomenon

- How MAPs fit with an orphan launch strategy


- How to design them effectively taking all stakeholders into account


- Best practice in implementation and management


- When does a MAP end?

Sam Lucas, SVP, Expanded Access Programs, Uniphar Group

- Advocacy


- Results of survey of patients with pancreatic and cholangiocarcinoma cancer


- Final thoughts

Melinda Bachini, Director of Advocacy, Cholangiocarcinoma Foundation

- 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?


- What R&D strategies can be implemented to accelerate the market access for orphan drugs?


- Challenges in bringing orphan drugs to patients after approval


- Informed consent

- Fairness in access

- Diversion of financial/human resources, scalability of therapies

- Unknown territory for regulators, IRBs

Lisa Kearns, Division of Medical Ethics, NYU Grossman School of Medicine

- Volv Global’s inTrigue AI algorithms identify diagnostic signals from patient medical record data and help patients receive treatment earlier by enabling earlier diagnosis, particularly of rare and difficult to detect or diagnose diseases.


Christopher Rudolf, Founder and CEO, Volv Global

- What mobile research nursing is all about.

- Utilising mobile research nursing in paediatric trials.

- Giving the child control over their participation in the trial.

Helen Springford, Chief Operating Officer,
Illingworth Research Group

- Addressing challenges for Rare diseases therapy development

- Current strategies to advance rare diseases therapy development

- Efficient and effective models for therapy development that are scalable and sustainable

- Legal foundation and regulatory pathways for innovative designs


- Design framework with integrated real-world evidence


- Virtual matched controls methodology for comparative effectiveness analysis


- Examples

- To follow shortly

David Pearce, President of Innovation, Research, and World Clinic, Sanford Health

Strategies to promote research discoveries and development of orphan products
- Overview of current methods for the prevention, diagnosis, and treatment of Rare Diseases.
- 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

6:00 pm - Chairperson's Closing Remarks

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