By Laura Taxel
Commissioned by The Jedi Rare Cancer Foundation

Abstract

In 2023, The Jedi Rare Cancer Foundation commissioned this landscape study and report to explore the state of research and discovery for rare cancer in the United States. The study aimed to understand why progress in developing therapeutics for rare cancer has not kept pace with advances in treating more common cancers, determining what is currently being done to address this need, and what would be required to expand upon and integrate these efforts.

The report contains qualitative data obtained from experts with specialized knowledge in the rare cancer space. It highlights that approximately one in four of the 1.9 million people in the United States who had or will receive a new cancer diagnosis in 2023 will have a ‘rare cancer,’ defined as an incidence of fewer than six cases per 100,000 people per year.

The report identifies a chain of issues related to rare cancer, including insufficient numbers of patients at any single location, difficulty enrolling enough patients in clinical trials, and a lack of localized biospecimens. These issues slow down data collection and research, leading to a lag in the development of therapeutics to treat rare cancer.

The report suggests that a more holistic, interconnected approach encompassing rare cancer research, public policy, education, and advocacy is required. It breaks down the factors discussed into four broad categories: Research; Biospecimens and Data; Patient-Centered Pathways; and Funding, Management, and Government.

The report also highlights the need for a consensus on what defines a cancer as rare and suggests that the field of oncology is moving away from classifying cancers by site of origin in the body to delineating tumor types based on molecular aberrations, vulnerabilities, and drivers.

The report concludes by emphasizing the importance of multi-year funding commitments for basic research for rare cancer and the need for institutional leadership to support and participate in pioneering projects. It also highlights the potential of drug repurposing and the need for innovative research models.

Introduction

This is not a landscape study as the term is conventionally understood in academic parlance. The Jed Ian Taxel Foundation for Rare Cancer Research (Jedi Rare Cancer Foundation) aims to explore the state of research and discovery for rare cancer in the United States and commissioned a study of the field. The aim was:

• to learn why progress in developing therapeutics for rare cancer has not kept pace with advances in treating the more common cancers;
• to determine what is currently being done to address this need and what would be required to expand upon and integrate these efforts; and
• to integrate all the information discussed into a comprehensive systemic approach to improve outcomes for every person diagnosed with a rare cancer.

No survey was conducted. There was no quantitative data collected and no analysis of existing data. There are no graphs and relatively few statistics beyond basic numbers that reveal how many Americans are affected by one of more than 200 different cancers considered rare or very rare.   

What is contained within this report is qualitative data obtained from experts with specialized relevant knowledge to inform this inquiry, answer questions, and pose new ones. These individuals represent multiple organizations, multiple diseases, and multiple points of view with insights gained from real-world medical science experience in the rare cancer space. 

The interviews confirmed that there is unanimity on the fundamental issues that inhibit rare cancer research progress. The consensus that emerged about obstacles and opportunities was gleaned from these conversations and includes suggestions for what’s needed, and some conclusions drawn from the process. Information relating to rare cancer organizations, research papers, and initiatives is linked within the text. This report is the only overview of its kind to date, but it is by no means exhaustive and should not be considered the final word on the subject.

It begins with some basic facts: as 2023 draws to a close, roughly 1.9 million people in the United States had or will receive a new cancer diagnosis, according to the National Cancer Institute, and one in five is a ‘rare cancer,’ defined as an incidence of fewer than six cases per 100,000 people per year. 

There are a variety of effective treatments for those with common cancers but for those with a rare cancer, which accounts for approximately 25 percent of all cancer cases and affects more than 400,000 Americans per year, there are few if any viable therapeutic options and outcomes are poor. There is widespread agreement that a more holistic, interconnected approach encompassing rare cancer research, public policy, education, and advocacy is required.

A chain of issues related to rare cancer – insufficient numbers of patients at any single location, hence a lack of localized biospecimens; difficulty enrolling enough patients in clinical trials and conducting randomized trials, which inhibits data collection and research and in turn slows discovery – has a cascading and negative impact, culminating in an inevitable lag in the development of therapeutics to treat rare cancer. The situation is compounded by the absence of a cohort of connected researchers committed to rare cancer science; the reluctance of big pharma to invest in rare cancer research; poor understanding of cancer pathophysiology and molecular characteristics; and clinicians without rare cancer expertise resulting in limited or lack of access for rare cancer patients to molecular testing for determining eligibility for targeted therapies.

Numerous organizations and single rare cancer advocacy groups have found ways to address some of these challenges but there is a lack of coordination between various efforts and initiatives. Academic research remains largely siloed. And so, the rare cancer space is fragmented into many different, independent communities.

It is not enough, however, to know what the obstacles are or to solve for only one or two of the challenges. All these factors are interconnected and do not exist independently of one another. For the dual purposes of deliberation and discussion, this report breaks down the factors discussed into four broad categories:

• Research
• Biospecimens and Data
• Patient-Centered Pathways
• Funding, Management and Government

These categories are the core of this report, and each will be looked at in detail. They are

intended to ‘set the table’ for the November 2023 gathering of established rare cancer leaders and activists in Cleveland, Ohio, convened by the Jedi Rare Cancer Foundation in partnership with the Case Comprehensive Cancer Center and the Rare Cancer Research Foundation.

Following the April 2022 rare cancer conference in New York City co-sponsored by the Jedi

Rare Cancer Foundation, the Foundation and Gary Schwartz, MD, Chairman of the Foundation’s Medical Advisory Board and Director of the Case Comprehensive Cancer Center, directed the production of this document to provide a conceptual framework for the November 2023 rare cancer workshop in Cleveland, Ohio. The goal of the workshop is to accelerate discovery and improve treatment options for all rare cancer patients by growing a cohesive core community of rare cancer experts with a shared mission and a collaborative ethos that can leverage aggregated assets, experiences, and influence to effect change.