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P58: Proactive/Prospective Feasibility Studies to Identify Rare Disease Patients for Clinical Trials

Poster Presenter

      Raymond A Huml

      • Vice President, Medical and Scientific Management, Head, Rare Disease Consortium
      • Syneos Health
        United States


This poster will describe a novel approach to prospectively identify patients with rare diseases for clinical trials by discussing two case examples to highlight the benefits and challenges of this approach while highlighting digital patient recruitment methods that can augment this effort.


Patient recruitment and retention are arguably among the biggest challenges to rare disease drug development. Soliciting feedback directly from sites may yield valuable information that might impact a protocol or the consideration of sites not originally targeted for the feasibility assessment.


Traditional feasibility exercises include the use of a finalized protocol. If the final protocol is not available and the sponsor wishes to better understand the global landscape for a rare disease or its subsets, a proactive global feasibility assessment can be used to: • Glean important information that can influence patient recruitment; • Identify the best path forward for the clinical research program, including design questions; • Identify early obstacles to clinical trial conduct, enabling sponsors to mitigate risks proactively; • Provide a potential opportunity for reviewing actual event data on survival and disease progression (e.g., for clinical trials of therapies with the potential for a cure, such as gene therapy); and • Begin to build relationships with key opinion leaders and investigators that are essential in rare disease research. This poster provides an overview of proactive global proactive feasibility assessments, to show how they can yield valuable information regarding rare disease patient recruitment and site selection for rare disease clinical trials as well as every other aspect of drug development. We conducted two, large, global proactive feasibility outreaches in 2018 (for Duchenne Muscular Dystrophy) and 2019 (for Limb Girdle Muscular Dystrophy) targeting over 200 investigators in over 40 different countries and published these results in the Journal for Clinical Studies in 2019 and 2020, respectively. This 2021 poster will summarize the key findings from these case studies that support a proactive feasibility approach as well as identifying "lessons learned" from utilizing this approach with multiple sponsors of multiple rare disease products from 3Q 2020 through 1Q 2021.


The goal of any feasibility assessment is ultimately to guide the sponsor into picking the best and fastest sites with highest chance of enrolling patients that will complete the sponsor’s study. From the standpoint of the sponsor, proactive feasibility can provide early insights, that, based on investigator willingness, projected recruitment, and an increased understanding of hurdles to recruitment (e.g., how to manage concierge services for patients that may need to travel long distances) may alter their clinical trial protocols before considering them final. Proactive feasibility can be educational and may elucidate clusters of patients that, up to that point, were unknown to the sponsor. As new recruitment challenges are elucidated in the proactive feasibility assessment, these recruitment challenges that can be further assessed during the conventional feasibility assessment. From the standpoint of patient advocacy groups, once proactive feasibility study results are published, they can be a tool to further educate sites and the global community about their disease, get a better handle on the global dispersion of patients (vs. for a particular country), and better understand standards of care.