Conference Agenda

Orphan Drugs Conference Day 2

Day 2: 19th November 2020

- Critical factors influencing the speed and productivity of innovation in rare disease is cost

and the lack of reliable or open access to comprehensive patient data for the following reasons:

  • The data exists, but is captive within a silo, institutional or company-owned, because of institutional / technological constraints, or is being held for exclusive commercial purpose
  • The data may exist, but not in a structure/form where it is available, visible or useful to researchers or patient communities.
  • The data doesn’t yet exist (because patients can’t access genomic or other testing, there is not a way to effectively collect patient-reported information, etc.).

- Solution:

  • ONE FREE data platform available to any and all rare disease patients / patient organizations in which the patient truly OWNS and CONTROLS the use of the data
  • Collect structured and STANDARDIZED data (best quality questions and answers that will produce the data needed by industry and FDA across diseases (not disease specific data)
  • Provide appropriate governance so data can be easily shared based on the wishes of the patient (not the patient organization)

Megan O'Boyle, Principal Investigator, Phelan-McDermid Syndrome International Registry

- A better understanding of long-term trends in a specific patient population


- What makes data good data?


- How does one harness unstructured data to provide value?


- Can you comment on the importance of data standards and ontologies?

- Describe FDA Patient Affairs Staff and patient engagement at FDA


- Share opportunities for patients, caregivers and advocates to engage with the Agency and get their perspectives heard


- Provide resources available to help patient communities connect with and navigate the Agency


Andrea Furia-Helms, Director of the Patient Affairs Staff, Office of Clinical Policy and Programs, Office of the Commissioner, U.S Food and Drug Administration

- Unpack the meaning and utility of real-world data (RWD) & real-real world evidence (RWE)


- Explain regulatory and legislative underpinning


- Identify disparate sources from which RWD is obtained


- Describe the collaborative ecosystems optimized to enable data


Dr Femida Gwadry-Sridhar, Chief Executive Officer & Founder, Pulse Infoframe

- Understanding the collective voice of the patients and represent the patients’ interest


- Patient involvement is crucial for identifying the questions to ask and the outcomes to assess

- Patient involvement is essential for achieving true translational research


- The identification and proper handling of patient needs in clinical research will yield advantages in terms of clinical and economic benefits.

- Learn about a clinical model for organizing and delivering the key elements of person-centered care.


- Identify where in this process might patients and their caregivers face “hidden” challenges and roadblocks to getting the right care to the right patient while navigating a very complicated and expensive healthcare system.


- Certain patients could benefit from social needs navigation through during their treatment, particularly when facing financial, transportation, work disruption, and other non-medical challenges.


- Learn where opportunities exist in the healthcare system for navigators to assist patients in their search for help and support.


Alan J. Balch, PhD, CEO, National Patient Advocate Foundation

- Devising funding strategies to develop drugs for the treatment of rare diseases remains a challenge as patient groups are often too small


- Bold new ways to secure investment


- Budget impact of RD therapies create a real concern for payers


- Responsible and evidence-based pricing, and innovative contracting


- Forward thinking approach for better market access to Rare Disease therapies


Raquel Cabo, VP, Global Market Access & Patient Services, Ovid Therapeutics

- Overview of Personalized medicine and Cell Product Manufacturing


- Challenges to meeting MFG and Patient requirements


- Addressing these changes and positioning for success

- Overview of Personalized medicine and Cell Product Manufacturing


- Challenges to meeting MFG and Patient requirements


- Addressing these changes and positioning for success

- Means in overcoming issues with “Diagnostic Odyssey“.


- Scientific advances in rare disease research that can positively impact treatments


- Strategies to overcome issues the rare disease community experience in accessing medical care, treatments, and supplemental income.


- Addressing the complete lack of public awareness

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