Rare Disease Treatment Market Trends

Growth Drivers

• Advances in diagnostics and disease understanding: According to a 2025 article from the National Institute of Health (NIH), 80% of distinct rare medical conditions are classified as genetic, where 70% and 3% manifest during childhood and the neonatal period. This displays the important role of the explosive expansion and advances in the genome sequencing industry as a major growth factor in the market. Evidencing the same, in 2022, the NLM published a meta-analysis, highlighting that pooled diagnostic rates from whole-exome sequencing (WES) and whole-genome sequencing (WGS) were higher than conventional methods, accounting for 0.3 and 0.4, respectively, opening new possibilities for previously untreated cases.  

Cost Savings from Rapid Genomic Sequencing in Clinical Practice (2022)

Source:NLM

• Rising investments in R&D and pipeline expansion: Both public and private organizations across the globe are heavily investing in extensive research to widen the fields of applications for the existing product portfolios. Every year, more than USD 10 billion is allocated solely to these cohorts worldwide in the rare disease treatment market. On the other hand, the commercial success of innovations induced from these efforts is also marking milestones. Exemplifying the same, the launch of Attruby (acoramidis) for treating transthyretin amyloid cardiomyopathy (ATTR-CM) in November 2024 earned USD 36.7 million in sales for BridgeBio Pharma from the U.S. market alone.
• Increased support from governing authorities: Recent reformation in public and certification governance is assuring future progress and substantial expansion for manufacturers in the market by allocating subsidies, incentives, and fast-tracked approvals. These create a favorable environment for this sector, while preventing financial and brand value losses by saving costs related to time-consuming compliance processes and patent expirations. A notable milestone was achieved in this aspect with the clearance for over 20 gene therapies by the FDA in recent years. For instance, in September 2024, Sanofi gained ODD from the FDA for its Dupixent, treating bullous pemphigoid.

Demographic Patterns in Key Landscapes of the Rare Disease Treatment Market

Overview of Rare Disease (RD) Incidence and Prevalence Across the U.S. (2023)

Source: FDA, DOH Washington, and ISPOR

Recent/Ongoing Development projects related to the Rare Disease Treatment Market

Current/Recent/Ongoing Clinical Trials on RD Drugs

Source: Clinicaltrials.gov

Challenges

• Infrastructural and accessibility limitations: Several economies, particularly underserved regions, face barriers in availing adequate products and services from the market. Lack of sufficient resources, infrastructure, standardization protocols, and diagnostic capabilities collectively impose gaps in patient access, which ultimately leads to limited adoption in this sector. Underscoring the same issue, the ICER report revealed that 90% of afflicted cases were lacking disease-specific FDA-approved treatment till 2022.
• High pricing pressures from payers: A 2024 NLM study marked Zolgensma for treating spinal muscular atrophy (SMA) as a premium-priced therapeutic due to its USD 2.1 million per-dose cost. As a result, a notable proportion of payers tend to impose strict pricing controls on such high pricing and often exclude these options from their reimbursement coverage plans. It not only makes the rate of affordability and uptake in the rare disease treatment market poorer but also shrinks the scope of profitability for advanced therapy manufacturers.