"Hope for some and gaps for many" in Therapy Pipeline for Pediatric Onset Rare Diseases

New Study Projects Future of Approvals, Patients Treated, Costs, and Gaps in Treatment Options

BOSTON, May 14, 2025 /PRNewswire/ -- New research in Journal of Managed Care + Specialty Pharmacy (JMCP) provides insights into the future landscape of treatments for rare diseases that present in childhood, offering a balanced picture of exciting progress for some conditions and serious concerns about growing gaps for the vast majority of pediatric rare diseases.
Using innovative predictive modeling techniques, researchers from the Center for Biomedical System Design in the Institute for Clinical Research and Health Policy Studies at Tufts Medical Center and the EveryLife Foundation for Rare Diseases (EveryLife Foundation) developed a 10-year projection of product approvals, patients treated, and list price revenues for pediatric-onset rare disease therapies through 2033. The study combines clinical drug pipeline data, clinical trial inclusion criteria, and epidemiological information to create a reliable forecast that stakeholders across the healthcare ecosystem can use for planning and decision-making.

The study, now available online, offers an in-depth examination of these critical issues facing the rare disease community, including the full methodology, detailed projections, and comprehensive analysis of implications for various stakeholders.

"We created this model to serve as a benchmark against which we can monitor trends and inform ongoing conversations about incentive structures for rare disease drug development," said Sharon Phares, PhD, a member of the research team from Tufts. "Our goal was to provide data that all stakeholders—from patients to policymakers—could rely on."

Approximately 45 new product indications are projected to receive FDA approval by 2033, with predicted list price revenues that represent just 1% of the nearly trillion-dollar annual economic impact of rare diseases. For families currently without treatment options, these approvals represent life-changing opportunities.

However, the model also highlights substantial gaps. Despite the anticipated advances, 95% of pediatric-onset rare diseases are still projected to have no approved treatments by 2033. The study warns that the rate of newly identified rare diseases is likely to outpace treatment development, suggesting the need for accelerated innovation and targeted policies.

"We undertook this research with the aim to help all the stakeholders in this system understand the challenges and make cooperative decisions," said Jamie Sullivan, Vice President of Policy at the EveryLife Foundation, and coauthor of the research. "We expect it to assist with planning for financing and access, illuminate areas of greatest need for investment, prepare healthcare providers for treatment expansion, and identify priorities for regulatory modernization. And while the study acknowledges policy opportunities—such as the Creating Hope Reauthorization—the methodology was applied in 2024 and does not account for dynamic policy developments that have occurred during the first 100 days of the Trump Administration." Additional modeling will be required to consider recent ecosystem impacts and to expand on the current study's emphasis that more comprehensive approaches are needed to address remaining gaps.

Baillie McGowan, Associate Director of Policy and Research at the EveryLife Foundation hopes this study provides trustworthy starting points for cross-stakeholder problem solving. "This research is an important step toward a shared understanding of the pediatric rare disease treatment landscape, providing a foundation for collaborative efforts to bridge the gap between current trajectories and the thousands of children still waiting for their first treatment option."

About the EveryLife Foundation for Rare Diseases

The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit organization powered by the rare disease community to improve health outcomes by driving change through evidence-based policy, leading science-driven policy and regulatory research, activating the community to advocate for their rights and needs, and strengthening the rare disease community.

To learn more, visit EveryLifeFoundation.org and follow us on Facebook, X, Instagram, and LinkedIn.

About the Center for Biomedical System Design

The Center for Biomedical System Design in the Institute for Clinical Research and Health Policy Studies at Tufts Medical Center is dedicated to improving health outcomes by accelerating appropriate and timely access for patients to biomedical products, in ways that work for all stakeholders. The Center designs, evaluates, and catalyzes the real-world implementation of system innovations that are too complex and cross-cutting to be addressed by a single organization or market sector. Its members include global leaders from patient advocacy, payer organizations, biopharmaceutical companies, regulatory agencies, clinical care, academic research, and investment firms. https://newdigs.tuftsmedicalcenter.org

SOURCE EVERYLIFE FOUNDATION FOR RARE DISEASES