Orphan Drugs Conference Day 2

- 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