Introduction
Amongst patients, industry, and policymakers there is a growing interest in disease prevention in order to improve population health, and many initiatives in non-communicable diseases have led the way in developing prevention strategies. Despite this, the vast majority of orphan designations are for ‘treatment’ of a condition, and the majority of these are clustered around just a few conditions. This clearly demonstrates that more must be done to develop a proactive approach to developing preventative medicines at scale, rebalancing the delivery of healthcare away from acute care into prevention.
This Task Force proposes to map the current preventative medicine pathway(s) and create recommendations that recognizes and manage the additional uncertainties of earlier intervention and small population research.
Objectives
- From a medicine’s development perspective in small populations, what are the specific challenges that need to be resolved when successfully developing medicines in the preventative space?
- How can the regulatory and access system evolve to support and optimise the field and mitigate the uncertainties?
- Are there activities, incentives or policies that could help, noting the low uptake of prevention orphan designation?
- How do we balance evidence generation from formal clinical trials versus real world data collection?
- How do we ensure that preventive intervention opportunities from an early diagnosis are not missed, what healthcare infrastructure is needed to link the diagnosed patient to a potential therapeutic intervention?
- How do we encourage global leadership in preventative medicines for rare disease patients?
Timeline
Recruitment and assembly of Task Force members (Q1, 2025)
Kickoff meeting (Q1, 2025)
In-person workshop (Q4, 2025)
Members
- Daniel O’Connor – The Association of British Pharmaceutical Industry, UK
- Anneliene Jonker – University of Twente, The Netherlands
- Alessandro Arrigo – IRCCS San Raffaele Hospital, Italy
- Amina Malek – Hôpital Saint-Antoine, APHP, France
- Ben Forred – Sanford Research, USA
- Gisele von Büren – Hoffmann-La Roche, Switzerland
- Guan Yang – City University of Hong-Kong, China
- Joao Rocha – EMA COMP, University of Lisbon, Portugal
- Jon Brudvig – Amicus Therapeutics, USA
- Juergen Reichardt – James Cook University, Australia
- Marc Dooms – University Hospitals Leuven, Belgium
- Michelle Farrar – Sydney Children Hospital, University New South Wales, Australia
- Rajesh Krishna – Certara, USA
- Robert Allaway – Sage Bionetworks, USA Ruty Shai – Chaim Sheba Medical Center, Israel