The “Guide to Patient Involvement in Rare Disease Therapy Development” is a resource for all stakeholders to utilize as we work to optimize our rare disease product development efforts.
Developed BY the community, FOR the community. This Guide is anchored in an assessment of FDA guidance on the inclusion of patient experience in therapy development for rare diseases. Whether you are a patient advocacy organization, industry partner, payer, or other critical stakeholder, the Guide is intended to embolden engagement among stakeholders.
View the Guide to Patient Involvement Webinar Presentation
What's Inside?
An overview of patient-focused therapy development and FDA’s leadership to generate and sustain its momentum.
Eight cross-cutting topics that emerged from the workshop series as key points of interaction between patient communities and research sponsors.
Each of the eight topics presents action steps for consideration by patient advocacy leaders and sponsors as well as a set of opportunities for collective action.
112 relevant resources – including more than 20 FDA guidance documents – are linked throughout the Guide for further exploration.
Workshop summaries are included as an addendum to the Guide, perfect for building an understanding of stage-specific opportunities to involve rare disease patients in therapy development.
Rare Disease PFDD Compendium Initiative by the Numbers
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23
Leadership and Steering Committee Members
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88
Subject Matter Experts
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20
FDA Guidances
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12
Hours of Workshops
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8
Cross-Cutting Topics and Sets of Action Steps
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4
Workshop Summaries
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112
Resources Linked in this Guide
Frequently Asked Questions
Who should use the Guide?
The Guide is designed for patient advocacy leaders, industry representatives, payers, and all within the rare disease ecosystem who are seeking to better understand how patient-focused medical product development and the related FDA guidances can be applied to development of therapeutics for rare diseases.
Who developed the Guide?
This landmark tool was developed by nearly 100 community leaders throughout 2021 during the PFDD Rare Disease Compendium Roundtables, a series of four virtual workshops that considered the application of FDA Guidances across four lifecycle stages of medical product development. The project was funded by the RARE Foundation, in partnership with Biotechnology Innovation Organization (BIO), the Kith Collective, National Health Council, and the Pharmaceutical Research and Manufacturers of America (PhRMA).
Why was the Guide developed?
During the annual RARE Foundation Community Congress meeting in December of 2019, members reflected on the shifting medical product development landscape. Seated in the room were leaders from the patient advocacy community and biopharmaceutical partners who together had spent the prior 18 months leaning into policy efforts that yielded the Patient Experience Data (PED) provisions within the 21st Century Cures Act and the expanded Patient-Focused Drug Development (PFDD) momentum of the Prescription Drug User Fee Act (PDUFA) VI.
The collective goal was that these policy efforts and the U.S. Food and Drug Administration (FDA) Guidances arising from these landmark bills would serve as a navigation tool to ease the “uphill climb” of therapy development.
But one very important question remained. How would these Guidances – the regulatory navigation tools – apply to therapy development for rare diseases? While comprehensive and forward leaning, the Guidances being developed and published were not yet specific to rare disease.
So the RARE Foundation joined with the Biotechnology Innovation Organization (BIO), the Kith Collective National Health Council, Pharmaceutical Research and Manufacturers of America (PhRMA) and an expert Steering Committee to lead a multi-stakeholder, collaborative effort to assess these guidances through the lens of rare disease medical product development.
It is the hope of its contributors that the Guide emboldens engagement among stakeholders as we work to address the unmet needs of rare disease patients.
How was the Guide developed?
A series of four virtual “PFDD Rare Disease Guidance Compendium” roundtables, held between June and October 2021, convened nearly 100 leaders to consider the application of guidances across four lifecycle stages of medical product development for rare diseases.
The summaries of these Roundtables informed the creation of the “Guide to Patient Involvement in Rare Disease Therapy Development,” released in January 2022. The Guide connects patient-focused medical product development policy to the challenges and opportunities present across all stages of the development and delivery of a therapeutic for a rare disease.
Acknowledgements
With deep gratitude to all who have contributed to this effort and the movement it reflects.
Project Leadership
Annie Kennedy, RARE Foundation
Victoria Dohnal, BIO (Aug. 10, 2021 – Nov 2021)
Kate Donigan, BIO (beginning Dec 2021)
Eric Gascho, National Health Council
Danielle Friend, BIO (through Aug. 7, 2021)
Maria Apostolaros, PhRMA
Christine Harhaj, PhRMA
Kim McCleary, Kith Collective
Samantha Mayberry, Kith Collective
Project Steering Committee
Jennifer Bright, The Innovation Value Initiative
Nimi Chhina, BioMarin
Ryan Fischer, PPMD
Emily Freeman, Lundbeck
Danielle Friend, J&J
Lauren Hetrick, AbbVie
Paul Howard, Amicus Therapeutics
Jill Jarecki, CureSMA
Alexis Miller, Merck
Steve Morin, Merck
Amy Nicole Nayar, Novartis
Cara O’Neill, Cure Sanfilippo Foundation
Samantha Roberts, Genentech
Sean Tunis, Rubix Health
Pujita Vaidya, Amgen
Kristin Van Goor, Vertex
Sponsors
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