Systemic gaps in rare disease care: Age-based approvals and policy failures leave adults without life-saving treatments

Indigenous knowledge systems often treat rare diseases as part of a broader ecological and spiritual imbalance, emphasizing holistic care over pharmaceutical solutions. Many communities view chronic illness as a family or communal responsibility, contrasting with the individualistic Western medical model that prioritizes age-based access. However, these perspectives are systematically marginalized in policy discussions, which favor Western biomedical frameworks and patent-driven drug development.

The exclusion of adults from rare disease research stems from mid-20th-century pediatric dominance in clinical trials, a legacy of the thalidomide scandal that prioritized child safety over adult efficacy. Regulatory frameworks like the Orphan Drug Act (1983) were designed to incentivize pediatric research, inadvertently creating a structural bias against adult rare disease treatments. Historical case studies, such as the delayed approval of enzyme replacement therapies for adult Hunter syndrome, reveal how policy inertia perpetuates inequities.

In Japan, rare disease policies incorporate 'compassionate use' programs that allow broader access to unapproved drugs, contrasting with the U.S. focus on age-based approvals. African traditional medicine systems often treat rare diseases as 'spiritual afflictions,' integrating herbal remedies with community rituals, though these are rarely recognized in global health policy. The Western model's emphasis on age stratification overlooks cultural variations in how illness is perceived and managed across generations.

Clinical trials for rare diseases are typically designed for pediatric populations due to higher enrollment feasibility and lower comorbidity rates, but this ignores the distinct pathophysiology of adult-onset rare diseases. Regulatory agencies like the FDA and EMA have begun addressing this gap with initiatives like the Rare Diseases Clinical Research Network, yet implementation remains inconsistent. The lack of adult-focused trial data perpetuates a cycle of exclusion, as seen in the case of Hunter syndrome, where enzyme replacement therapy was approved for children but not adults for decades.

Artistic expressions of rare disease often center on themes of isolation and resilience, such as the work of photographer Tim Hetherington, who documented chronic illness in war zones. Spiritual frameworks, like those in Hindu Ayurveda, view rare diseases as karmic imbalances requiring holistic healing, contrasting with the Western biomedical focus on age-based access. These perspectives are rarely integrated into policy discussions, which prioritize quantitative metrics over lived experience.

Future scenarios must account for the aging global population, where rare diseases increasingly manifest in adulthood, necessitating adaptive regulatory frameworks. Scenario planning should include models like 'precision public health,' which tailors interventions to subpopulations, including adults with rare diseases. Without proactive reforms, the gap between pediatric and adult access will widen, exacerbating health disparities and increasing the economic burden on families and healthcare systems.

Adults with rare diseases are a marginalized group within the rare disease community, often excluded from advocacy efforts dominated by pediatric cases and parent-led organizations. Racial and ethnic minorities are disproportionately affected by rare diseases but underrepresented in clinical trials, compounding access barriers. The lack of representation in policy discussions ensures that their needs—such as flexible dosing regimens or caregiver support—are overlooked in favor of pediatric-centric solutions.